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nsv6314030

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:95,354,106
  • Description:GRCh37/hg19 13q11-34(chr13:19436286-114981726) AND not specified

Genome View

Select assembly:
Overlapping variant regions from other studies: 263456 SVs from 151 studies. See in: genome view    
Remapped(Score: Good):18,862,146-114,216,251Question Mark
Overlapping variant regions from other studies: 263385 SVs from 151 studies. See in: genome view    
Submitted genomic19,436,286-114,981,726Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6314030RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000013.11Chr1318,862,146114,216,251
nsv6314030Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000013.10Chr1319,436,286114,981,726

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17969571copy number gainMultipleMultiplenot specifiedPathogenicClinVarRCV002053035.3, VCV001527749.3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17969571RemappedGoodNC_000013.11:g.(?_
18862146)_(1142162
51_?)dup
GRCh38.p12First PassNC_000013.11Chr1318,862,146114,216,251
nssv17969571Submitted genomicNC_000013.10:g.(?_
19436286)_(1149817
26_?)dup
GRCh37 (hg19)NC_000013.10Chr1319,436,286114,981,726

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17969571GRCh37: NC_000013.10:g.(?_19436286)_(114981726_?)dupcopy number gaingermlinenot specifiedPathogenicClinVarRCV002053035.3, VCV001527749.3

No genotype data were submitted for this variant

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