A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523146



Internal ID15450439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36622077..36670766hg38UCSC Ensembl
Innerchr2:36849220..36897909hg19UCSC Ensembl
Innerchr2:36702724..36751413hg18UCSC Ensembl
Innerchr2:36760871..36809560hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3848690
hg1948690
hg1848690
hg1748690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698854
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523146
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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