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nsv7098899

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:9,610,911
  • Description:GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 25035 SVs from 120 studies. See in: genome view    
Remapped(Score: Good):95,023,173-104,634,083Question Mark
Overlapping variant regions from other studies: 25040 SVs from 120 studies. See in: genome view    
Submitted genomic95,675,427-105,286,434Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv7098899RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000013.11Chr1395,023,17395,023,173104,634,083104,634,083
nsv7098899Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000013.10Chr1395,675,42795,700,999105,271,065105,286,434

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18792746copy number gainMultipleMultipleSee casesPathogenicClinVarRCV003159553.1, VCV002446726.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv18792746RemappedGoodNC_000013.11:g.(95
023173_95023173)_(
104634083_10463408
3)dup
GRCh38.p12First PassNC_000013.11Chr1395,023,17395,023,173104,634,083104,634,083
nssv18792746Submitted genomicNC_000013.10:g.(95
675427_95700999)_(
105271065_10528643
4)dup
GRCh37 (hg19)NC_000013.10Chr1395,675,42795,700,999105,271,065105,286,434

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18792746GRCh37: NC_000013.10:g.(95675427_95700999)_(105271065_105286434)dupcopy number gainde novoSee casesPathogenicClinVarRCV003159553.1, VCV002446726.13

No genotype data were submitted for this variant

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