A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583173



Internal ID16023896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:136269017..136794684hg38UCSC Ensembl
Innerchr2:137026587..137552254hg19UCSC Ensembl
Innerchr2:136743057..137268724hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38525668
hg19525668
hg18525668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920098
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583173
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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