A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690182



Internal ID15426834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:19189538..19209646hg38UCSC Ensembl
Innerchr2:19389299..19409407hg19UCSC Ensembl
Innerchr2:19252780..19272888hg18UCSC Ensembl
Innerchr2:19310927..19331035hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3820109
hg1920109
hg1820109
hg1720109
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516775
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690182
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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