nsv3897625

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:14,973,689
  • Description:GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 42745 SVs from 114 studies. See in: genome view    
Remapped(Score: Good):150,732-15,124,420Question Mark
Overlapping variant regions from other studies: 40668 SVs from 114 studies. See in: genome view    
Submitted genomic525-15,027,737Question Mark
Overlapping variant regions from other studies: 16554 SVs from 43 studies. See in: genome view    
Remapped(Score: Good):525-14,968,462Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3897625RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000017.11Chr17150,73215,124,420
nsv3897625Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1752515,027,737
nsv3897625RemappedGoodNCBI36 (hg18)Primary AssemblyFirst PassNC_000017.9Chr1752514,968,462

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15150353copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000511786.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15150353RemappedGoodNC_000017.11:g.(?_
150732)_(15124420_
?)dup
GRCh38.p12First PassNC_000017.11Chr17150,73215,124,420
nssv15150353Submitted genomicNC_000017.10:g.(?_
525)_(15027737_?)d
up
GRCh37 (hg19)NC_000017.10Chr1752515,027,737
nssv15150353RemappedGoodNC_000017.9:g.(?_5
25)_(14968462_?)du
p
NCBI36 (hg18)First PassNC_000017.9Chr1752514,968,462

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15150353NC_000017.10:g.(?_525)_(15027737_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000511786.13

No genotype data were submitted for this variant

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