U.S. flag

An official website of the United States government

nsv3912676

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:9,950,066
  • Description:GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 47645 SVs from 141 studies. See in: genome view    
Submitted genomic241,530-10,191,595Question Mark
Overlapping variant regions from other studies: 47293 SVs from 142 studies. See in: genome view    
Submitted genomic191,530-10,049,105Question Mark
Overlapping variant regions from other studies: 13312 SVs from 37 studies. See in: genome view    
Submitted genomic181,530-10,086,515Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3912676Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000008.11Chr8241,53010,191,595
nsv3912676Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr8191,53010,049,105
nsv3912676Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000008.9Chr8181,53010,086,515

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147275copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000134879.6, VCV000145525.21

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15147275Submitted genomicNC_000008.11:g.(?_
241530)_(10191595_
?)del
GRCh38 (hg38)NC_000008.11Chr8241,53010,191,595
nssv15147275Submitted genomicNC_000008.10:g.(?_
191530)_(10049105_
?)del
GRCh37 (hg19)NC_000008.10Chr8191,53010,049,105
nssv15147275Submitted genomicNC_000008.9:g.(?_1
81530)_(10086515_?
)del
NCBI36 (hg18)NC_000008.9Chr8181,53010,086,515

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147275GRCh37: NC_000008.10:g.(?_191530)_(10049105_?)del, GRCh38: NC_000008.11:g.(?_241530)_(10191595_?)del, NCBI36: NC_000008.9:g.(?_181530)_(10086515_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000134879.6, VCV000145525.21

No genotype data were submitted for this variant

Support Center