nsv530484

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:136,422

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 264 SVs from 23 studies. See in: genome view    
Remapped(Score: Good):77,902,592-78,039,013Question Mark
Overlapping variant regions from other studies: 20 SVs from 6 studies. See in: genome view    
Remapped(Score: Pass):459,854-528,674Question Mark
Overlapping variant regions from other studies: 196 SVs from 17 studies. See in: genome view    
Remapped(Score: Pass):77,158,089-77,226,909Question Mark
Overlapping variant regions from other studies: 92 SVs from 10 studies. See in: genome view    
Submitted genomic77,044,745-77,181,167Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv530484RemappedGoodGRCh38 (hg38)Primary AssemblyFirst PassNC_000023.11ChrX77,902,59278,039,013
nsv530484RemappedPassGRCh37.p13PATCHESFirst PassNW_003871101.3ChrX|NW_00
3871101.3
459,854528,674
nsv530484RemappedPassGRCh37 (hg19)Primary AssemblySecond PassNC_000023.10ChrX77,158,08977,226,909
nsv530484Submitted genomicNCBI36 (hg18)NC_000023.9ChrX77,044,74577,181,167

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy number
nssv706383copy number lossOligo aCGHProbe signal intensitySeizuresUncertain significanceSCV000175525classified by single submitter1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv706383RemappedGoodNC_000023.11:g.(?_
77902592)_(7803901
3_?)del
GRCh38 (hg38)Primary AssemblyFirst PassNC_000023.11ChrX77,902,59278,039,013
nssv706383RemappedPassNW_003871101.3:g.(
?_459854)_(528674_
?)del
GRCh37.p13PATCHESFirst PassNW_003871101.3ChrX|NW_00
3871101.3
459,854528,674
nssv706383RemappedPassNC_000023.10:g.(?_
77158089)_(7722690
9_?)del
GRCh37 (hg19)Primary AssemblySecond PassNC_000023.10ChrX77,158,08977,226,909
nssv706383Submitted genomicNC_000023.9:g.(?_7
7044745)_(77181167
_?)del
NCBI36 (hg18)NC_000023.9ChrX77,044,74577,181,167

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv70638362Sample data available in dbGaPFISHManual observationPass

Clinical Assertions

Variant Call IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelCopy number
nssv706383SCV000175525NC_000023.9:g.(?_77044745)_(77181167_?)delcopy number lossMaternalSeizuresUncertain significanceclassified by single submitter1

No genotype data were submitted for this variant

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