U.S. flag

An official website of the United States government

nsv3920508

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:29,089,082
  • Description:GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 93084 SVs from 135 studies. See in: genome view    
Submitted genomic51,167,159-80,256,240Question Mark
Overlapping variant regions from other studies: 92948 SVs from 135 studies. See in: genome view    
Submitted genomic48,693,529-78,014,123Question Mark
Overlapping variant regions from other studies: 24072 SVs from 40 studies. See in: genome view    
Submitted genomic46,947,527-76,115,097Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3920508Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000018.10Chr1851,167,15980,256,240
nsv3920508Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1848,693,52978,014,123
nsv3920508Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000018.8Chr1846,947,52776,115,097

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15138502copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000140925.4, VCV000152372.21

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15138502Submitted genomicNC_000018.10:g.(?_
51167159)_(8025624
0_?)del
GRCh38 (hg38)NC_000018.10Chr1851,167,15980,256,240
nssv15138502Submitted genomicNC_000018.9:g.(?_4
8693529)_(78014123
_?)del
GRCh37 (hg19)NC_000018.9Chr1848,693,52978,014,123
nssv15138502Submitted genomicNC_000018.8:g.(?_4
6947527)_(76115097
_?)del
NCBI36 (hg18)NC_000018.8Chr1846,947,52776,115,097

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15138502GRCh37: NC_000018.9:g.(?_48693529)_(78014123_?)del, GRCh38: NC_000018.10:g.(?_51167159)_(80256240_?)del, NCBI36: NC_000018.8:g.(?_46947527)_(76115097_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000140925.4, VCV000152372.21

No genotype data were submitted for this variant

Support Center