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nsv3872102

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:2,382,963
  • Description:GRCh37/hg19 5q14.3(chr5:87764485-90147447)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 4707 SVs from 91 studies. See in: genome view    
Remapped(Score: Perfect):88,468,668-90,851,630Question Mark
Overlapping variant regions from other studies: 4708 SVs from 91 studies. See in: genome view    
Submitted genomic87,764,485-90,147,447Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3872102RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr588,468,66890,851,630
nsv3872102Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr587,764,48590,147,447

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15142367copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000511258.2, VCV000441749.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15142367RemappedPerfectNC_000005.10:g.(?_
88468668)_(9085163
0_?)del
GRCh38.p12First PassNC_000005.10Chr588,468,66890,851,630
nssv15142367Submitted genomicNC_000005.9:g.(?_8
7764485)_(90147447
_?)del
GRCh37 (hg19)NC_000005.9Chr587,764,48590,147,447

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15142367GRCh37: NC_000005.9:g.(?_87764485)_(90147447_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000511258.2, VCV000441749.21

No genotype data were submitted for this variant

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