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nsv3891560

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:15,031,901
  • Description:GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 35244 SVs from 126 studies. See in: genome view    
Submitted genomic186,027,472-201,059,372Question Mark
Overlapping variant regions from other studies: 35244 SVs from 126 studies. See in: genome view    
Submitted genomic186,892,199-201,924,095Question Mark
Overlapping variant regions from other studies: 9283 SVs from 33 studies. See in: genome view    
Submitted genomic186,600,444-201,632,340Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3891560Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000002.12Chr2186,027,472201,059,372
nsv3891560Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2186,892,199201,924,095
nsv3891560Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000002.10Chr2186,600,444201,632,340

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15133754copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000135876.5, VCV000146616.21

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15133754Submitted genomicNC_000002.12:g.(?_
186027472)_(201059
372_?)del
GRCh38 (hg38)NC_000002.12Chr2186,027,472201,059,372
nssv15133754Submitted genomicNC_000002.11:g.(?_
186892199)_(201924
095_?)del
GRCh37 (hg19)NC_000002.11Chr2186,892,199201,924,095
nssv15133754Submitted genomicNC_000002.10:g.(?_
186600444)_(201632
340_?)del
NCBI36 (hg18)NC_000002.10Chr2186,600,444201,632,340

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15133754GRCh37: NC_000002.11:g.(?_186892199)_(201924095_?)del, GRCh38: NC_000002.12:g.(?_186027472)_(201059372_?)del, NCBI36: NC_000002.10:g.(?_186600444)_(201632340_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000135876.5, VCV000146616.21

No genotype data were submitted for this variant

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