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Supporting Variant Placements for nstd75 (displaying 100 of 2419 variants)
Study IDVariant IDVariant Region typeVariant Call typeSampleset IDMethodAnalysis IDValidationVariant samplesSubject phenotypeClinical InterpretationAssemblyAccessionChrOuter-StartStartInner-StartInner-EndEndOuter-EndPlacement TypeRemap Score
nstd75nssv1605354copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1106Developmental delay AND/OR other significant developmental or morphological phenotypesLikely benignGRCh37 (hg19)NC_000001.1018603691654178Remapped1
nstd75nssv1607457copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_826Developmental delay AND/OR other significant developmental or morphological phenotypesLikely benignGRCh37 (hg19)NC_000001.1019417783295577297Remapped1
nstd75nssv1605311copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1068Developmental delay AND/OR other significant developmental or morphological phenotypesLikely benignGRCh37 (hg19)NC_000001.101103681853105642695Remapped0.98546
nstd75nssv1605359copy number gainOligo aCGHProbe signal intensityYesISCA_ID_pn_1111Developmental delay AND/OR other significant developmental or morphological phenotypesUncertain significanceGRCh37 (hg19)NC_000001.101108387228120471049Remapped0.99594
nstd75nssv1606551copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2167Developmental delay AND/OR other significant developmental or morphological phenotypesLikely benignGRCh37 (hg19)NC_000001.101118434740120471049Remapped0.9764
nstd75nssv1606492copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2115HoloprosencephalyBenignGRCh37 (hg19)NC_000001.101144337916145395604Remapped1
nstd75nssv1606243copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1898Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101145372550145792052Remapped1
nstd75nssv1606226copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_19Arthrogryposis multiplex congenitaUncertain significanceGRCh37 (hg19)NC_000001.101145372550146012524Remapped1
nstd75nssv1605507copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1243Ventricular septal defectUncertain significanceGRCh37 (hg19)NC_000001.101145372551145932457Remapped1
nstd75nssv1607568copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_926Developmental delay AND/OR other significant developmental or morphological phenotypesPathogenicGRCh37 (hg19)NC_000001.101145799542147907921Remapped1.13132
nstd75nssv1605998copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_1682Developmental delay AND/OR other significant developmental or morphological phenotypesPathogenicGRCh37 (hg19)NC_000001.101145932455147831171Remapped1.14797
nstd75nssv1605931copy number gainOligo aCGHProbe signal intensityYesISCA_ID_pn_1622Developmental delay AND/OR other significant developmental or morphological phenotypesPathogenicGRCh37 (hg19)NC_000001.101145984926147907922Remapped1.14583
nstd75nssv1606072copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1746Fetal megacystisPathogenicGRCh37 (hg19)NC_000001.101145984926147907922Remapped1.14583
nstd75nssv1607546copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_906Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148530423149778729Remapped1
nstd75nssv1605335copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1090Increased nuchal translucencyBenignGRCh37 (hg19)NC_000001.101148530423149875819Remapped1
nstd75nssv1606713copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2312Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148545275149232621Remapped1
nstd75nssv1606873copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_303Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148545275149699560Remapped1
nstd75nssv1607388copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_765Increased nuchal translucencyBenignGRCh37 (hg19)NC_000001.101148575302149772497Remapped1
nstd75nssv1605575copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1303Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148661175149875819Remapped1
nstd75nssv1606484copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2107HoloprosencephalyBenignGRCh37 (hg19)NC_000001.101148789835149875819Remapped1
nstd75nssv1605682copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1399Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867350149155189Remapped1
nstd75nssv1605689copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1405Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867350149232621Remapped1
nstd75nssv1606090copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1763Intrauterine growth retardationBenignGRCh37 (hg19)NC_000001.101148867350149232621Remapped1
nstd75nssv1606130copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1797Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867350149232621Remapped1
nstd75nssv1606782copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_24Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867350149232621Remapped1
nstd75nssv1607004copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_421Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867350149232621Remapped1
nstd75nssv1607006copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_423Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867350149232621Remapped1
nstd75nssv1607414copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_788Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867350149232621Remapped1
nstd75nssv1606325copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1972Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867350149699560Remapped1
nstd75nssv1605842copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1542Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867350149768995Remapped1
nstd75nssv1605904copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1598Morphological abnormality of the central nervous systemBenignGRCh37 (hg19)NC_000001.101148867550149232482Remapped1
nstd75nssv1606053copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1729Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867550149232482Remapped1
nstd75nssv1606696copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2296Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867550149232482Remapped1
nstd75nssv1607398copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_774OmphaloceleBenignGRCh37 (hg19)NC_000001.101148867550149232482Remapped1
nstd75nssv1607454copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_824Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148867550149699360Remapped1
nstd75nssv1605377copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1127Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1605428copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1173Thickened nuchal skin foldBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1605473copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1213Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1605855copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1554Increased nuchal translucencyBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1606039copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1717Intrauterine growth retardationBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1606382copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2022Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1606407copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2043Increased nuchal translucencyBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1607024copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_439Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1607256copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_65Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1607353copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_733Increased nuchal translucencyBenignGRCh37 (hg19)NC_000001.101148936452149232621Remapped1
nstd75nssv1605282copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1042Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101149040812149699560Remapped1
nstd75nssv1605453copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1195Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101149040812149699560Remapped1
nstd75nssv1605990copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1675Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101149040812149699560Remapped1
nstd75nssv1606416copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_207Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101149040812149699560Remapped1
nstd75nssv1606715copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2314Abnormality of the posterior cranial fossaBenignGRCh37 (hg19)NC_000001.101149040812149699560Remapped1
nstd75nssv1607229copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_622Thickened nuchal skin foldBenignGRCh37 (hg19)NC_000001.101149040812149699560Remapped1
nstd75nssv1607358copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_737Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101149040812149699560Remapped1
nstd75nssv1607529copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_892Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101149040812149699560Remapped1
nstd75nssv1606672copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_229Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101149040812149768995Remapped1
nstd75nssv1605251copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1015Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101149041012149699421Remapped1
nstd75nssv1605778copy number gainOligo aCGHProbe signal intensityYesISCA_ID_pn_1485Mild fetal ventriculomegalyPathogenicGRCh37 (hg19)NC_000001.101218072309249208333Remapped1.00322
nstd75nssv1605954copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1642Developmental delay AND/OR other significant developmental or morphological phenotypesLikely benignGRCh37 (hg19)NC_000001.101241072791242005532Remapped1
nstd75nssv1605985copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1670Mild fetal ventriculomegalyBenignGRCh37 (hg19)NC_000001.101247776209248094028Remapped1
nstd75nssv1607583copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_939Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101247819974248865778Remapped0.99861
nstd75nssv1607515copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_879Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101247846032248257004Remapped1
nstd75nssv1606309copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1958Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101247846232248256864Remapped1
nstd75nssv1607223copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_62Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101248339939248684909Remapped1
nstd75nssv1606091copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1764Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000001.101248429070248772384Remapped1
nstd75nssv1606024copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1704Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1123034095735870Remapped1.00659
nstd75nssv1606637copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2245Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128737587688005558Remapped1.12991
nstd75nssv1605348copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1101Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128908598692090873Remapped1.16131
nstd75nssv1605911copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1604Intrauterine growth retardationBenignGRCh37 (hg19)NC_000002.1128913311189545331Remapped1
nstd75nssv1607574copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_932Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128913311189583895Remapped1
nstd75nssv1605879copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1576Increased nuchal translucencyBenignGRCh37 (hg19)NC_000002.1128913311190035842Remapped1.18949
nstd75nssv1606591copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2203Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128913311190195665Remapped1.15653
nstd75nssv1607392copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_768Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128913311190225266Remapped1.15164
nstd75nssv1606614copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_2224Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128913311191791144Remapped1.18628
nstd75nssv1607549copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_909Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128913311192057598Remapped1.16648
nstd75nssv1607133copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_538Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128913603989545331Remapped1
nstd75nssv1605776copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1483Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128913603989593743Remapped1
nstd75nssv1605373copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1123Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128913611589593743Remapped1
nstd75nssv1606805copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_242Mild fetal ventriculomegalyBenignGRCh37 (hg19)NC_000002.1128914581190195665Remapped1.15872
nstd75nssv1605407copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1154Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128914581190225266Remapped1.1537
nstd75nssv1606074copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1748Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128914581190267091Remapped1.14712
nstd75nssv1606910copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_337Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128914581191791144Remapped1.18734
nstd75nssv1605368copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1119Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128914581192057598Remapped1.16733
nstd75nssv1607604copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_958Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128948893791766791Remapped1.22435
nstd75nssv1606215copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_189Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128950046091815702Remapped1.21993
nstd75nssv1605699copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_1414Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128952193391653934Remapped1.24343
nstd75nssv1606205copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_1864Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128958389491653934Remapped1.25256
nstd75nssv1607584copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_940Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128959869591627978Remapped1.25894
nstd75nssv1606338copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_20Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128961439791627978Remapped1.26149
nstd75nssv1606923copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_35Increased nuchal translucencyBenignGRCh37 (hg19)NC_000002.1128961542991645185Remapped1.25887
nstd75nssv1605694copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_142Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128961542991686694Remapped1.25237
nstd75nssv1606861copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_293Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128962699190321385Remapped1.26119
nstd75nssv1607611copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_97Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1128993494691653934Remapped1.18906
nstd75nssv1605618copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1341Increased nuchal translucencyBenignGRCh37 (hg19)NC_000002.1128999502591964678Remapped1.1613
nstd75nssv1606286copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_1937Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1129001112591653934Remapped1.1998
nstd75nssv1605347copy number lossOligo aCGHProbe signal intensityNoISCA_ID_pn_1100Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1129013480791627978Remapped1.22432
nstd75nssv1605334copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1089Mild fetal ventriculomegalyBenignGRCh37 (hg19)NC_000002.1129024207591627978Remapped1.24595
nstd75nssv1607528copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_891Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.1129024225592134482Remapped1.16902
nstd75nssv1605774copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1481Increased nuchal translucencyBenignGRCh37 (hg19)NC_000002.112110704031110983669Remapped1
nstd75nssv1605989copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_1674Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.112110704031111084885Remapped0.83142
nstd75nssv1607592copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_947Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.112110704031111084885Remapped0.83142
nstd75nssv1607366copy number gainOligo aCGHProbe signal intensityNoISCA_ID_pn_745Developmental delay AND/OR other significant developmental or morphological phenotypesBenignGRCh37 (hg19)NC_000002.112110783035110981045Remapped1
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