A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702404



Internal ID15092370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32529919..32551103hg38UCSC Ensembl
Innerchr2:32754986..32776170hg19UCSC Ensembl
Innerchr2:32608490..32629674hg18UCSC Ensembl
Innerchr2:32666637..32687821hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3821185
hg1921185
hg1821185
hg1721185
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516173
Supporting Variants
Samples
Known GenesBIRC6, MIR558
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702404
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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