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nsv3905582

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:17,115,208
  • Description:GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 40365 SVs from 131 studies. See in: genome view    
Submitted genomic176,086,763-193,201,970Question Mark
Overlapping variant regions from other studies: 40366 SVs from 131 studies. See in: genome view    
Submitted genomic176,951,491-194,066,696Question Mark
Overlapping variant regions from other studies: 11117 SVs from 38 studies. See in: genome view    
Submitted genomic176,659,737-193,774,941Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3905582Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000002.12Chr2176,086,763193,201,970
nsv3905582Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2176,951,491194,066,696
nsv3905582Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000002.10Chr2176,659,737193,774,941

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15138862copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000143484.5, VCV000155417.21

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15138862Submitted genomicNC_000002.12:g.(?_
176086763)_(193201
970_?)del
GRCh38 (hg38)NC_000002.12Chr2176,086,763193,201,970
nssv15138862Submitted genomicNC_000002.11:g.(?_
176951491)_(194066
696_?)del
GRCh37 (hg19)NC_000002.11Chr2176,951,491194,066,696
nssv15138862Submitted genomicNC_000002.10:g.(?_
176659737)_(193774
941_?)del
NCBI36 (hg18)NC_000002.10Chr2176,659,737193,774,941

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15138862GRCh37: NC_000002.11:g.(?_176951491)_(194066696_?)del, GRCh38: NC_000002.12:g.(?_176086763)_(193201970_?)del, NCBI36: NC_000002.10:g.(?_176659737)_(193774941_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000143484.5, VCV000155417.21

No genotype data were submitted for this variant

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