A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv718370



Internal ID16012326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:80937298..80953834hg38UCSC Ensembl
Innerchr1:81402983..81419519hg19UCSC Ensembl
Innerchr1:81175571..81192107hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3816537
hg1916537
hg1816537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546677
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv718370
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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