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nsv3916438

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:93,254,155
  • Description:GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 230532 SVs from 145 studies. See in: genome view    
Submitted genomic46,031,340-139,285,494Question Mark
Overlapping variant regions from other studies: 230558 SVs from 145 studies. See in: genome view    
Submitted genomic46,942,962-140,297,737Question Mark
Overlapping variant regions from other studies: 57469 SVs from 41 studies. See in: genome view    
Submitted genomic47,062,127-140,366,919Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3916438Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000008.11Chr846,031,340139,285,494
nsv3916438Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr846,942,962140,297,737
nsv3916438Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000008.9Chr847,062,127140,366,919

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15161797copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000139539.5, VCV000150723.23

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15161797Submitted genomicNC_000008.11:g.(?_
46031340)_(1392854
94_?)dup
GRCh38 (hg38)NC_000008.11Chr846,031,340139,285,494
nssv15161797Submitted genomicNC_000008.10:g.(?_
46942962)_(1402977
37_?)dup
GRCh37 (hg19)NC_000008.10Chr846,942,962140,297,737
nssv15161797Submitted genomicNC_000008.9:g.(?_4
7062127)_(14036691
9_?)dup
NCBI36 (hg18)NC_000008.9Chr847,062,127140,366,919

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15161797GRCh37: NC_000008.10:g.(?_46942962)_(140297737_?)dup, GRCh38: NC_000008.11:g.(?_46031340)_(139285494_?)dup, NCBI36: NC_000008.9:g.(?_47062127)_(140366919_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000139539.5, VCV000150723.23

No genotype data were submitted for this variant

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