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nsv4728524

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:356,970
  • Description:GRCh37/hg19 Xq13.1(chrX:70386654-70743623)x2 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 685 SVs from 54 studies. See in: genome view    
Remapped(Score: Perfect):71,166,804-71,523,773Question Mark
Overlapping variant regions from other studies: 685 SVs from 54 studies. See in: genome view    
Submitted genomic70,386,654-70,743,623Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
nsv4728524RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX71,166,80471,523,773
nsv4728524Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX70,386,65470,743,623

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17955540copy number gainMultipleMultipleSee casesUncertain significanceClinVarRCV001780080.1, VCV001322000.12

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartOuter Stop
nssv17955540RemappedPerfectNC_000023.11:g.(71
166804_?)_(?_71523
773)dup
GRCh38.p12First PassNC_000023.11ChrX71,166,80471,523,773
nssv17955540Submitted genomicNC_000023.10:g.(70
386654_?)_(?_70743
623)dup
GRCh37 (hg19)NC_000023.10ChrX70,386,65470,743,623

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17955540GRCh37: NC_000023.10:g.(70386654_?)_(?_70743623)dupcopy number gainunknownSee casesUncertain significanceClinVarRCV001780080.1, VCV001322000.12

No genotype data were submitted for this variant

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