A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696448



Internal ID15086414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238099562..238115539hg38UCSC Ensembl
Innerchr2:239008203..239024180hg19UCSC Ensembl
Innerchr2:238672942..238688919hg18UCSC Ensembl
Innerchr2:238790203..238806180hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3815978
hg1915978
hg1815978
hg1715978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518981
Supporting Variants
Samples
Known GenesESPNL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696448
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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