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nsv3921773

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:30,726,198
  • Description:GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 89027 SVs from 137 studies. See in: genome view    
Submitted genomic12,609,975-43,336,172Question Mark
Overlapping variant regions from other studies: 89022 SVs from 137 studies. See in: genome view    
Submitted genomic12,467,484-43,191,315Question Mark
Overlapping variant regions from other studies: 23040 SVs from 38 studies. See in: genome view    
Submitted genomic12,511,855-43,310,472Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3921773Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000008.11Chr812,609,97543,336,172
nsv3921773Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr812,467,48443,191,315
nsv3921773Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000008.9Chr812,511,85543,310,472

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15146540copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000053630.5, VCV000059764.13

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15146540Submitted genomicNC_000008.11:g.(?_
12609975)_(4333617
2_?)dup
GRCh38 (hg38)NC_000008.11Chr812,609,97543,336,172
nssv15146540Submitted genomicNC_000008.10:g.(?_
12467484)_(4319131
5_?)dup
GRCh37 (hg19)NC_000008.10Chr812,467,48443,191,315
nssv15146540Submitted genomicNC_000008.9:g.(?_1
2511855)_(43310472
_?)dup
NCBI36 (hg18)NC_000008.9Chr812,511,85543,310,472

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15146540GRCh37: NC_000008.10:g.(?_12467484)_(43191315_?)dup, GRCh38: NC_000008.11:g.(?_12609975)_(43336172_?)dup, NCBI36: NC_000008.9:g.(?_12511855)_(43310472_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000053630.5, VCV000059764.13

No genotype data were submitted for this variant

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