A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703940



Internal ID15440592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38526195..38532655hg38UCSC Ensembl
Innerchr2:38753337..38759797hg19UCSC Ensembl
Innerchr2:38606841..38613301hg18UCSC Ensembl
Innerchr2:38664988..38671448hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386461
hg196461
hg186461
hg176461
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527492
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703940
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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