A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696169



Internal ID15432821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48396868..48423169hg38UCSC Ensembl
Innerchr2:48624007..48650308hg19UCSC Ensembl
Innerchr2:48477511..48503812hg18UCSC Ensembl
Innerchr2:48535658..48561959hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3826302
hg1926302
hg1826302
hg1726302
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518718
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696169
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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