A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691333



Internal ID15081299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42752929..42793774hg38UCSC Ensembl
Innerchr2:42980069..43020914hg19UCSC Ensembl
Innerchr2:42833573..42874418hg18UCSC Ensembl
Innerchr2:42891720..42932565hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3840846
hg1940846
hg1840846
hg1740846
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519877
Supporting Variants
Samples
Known GenesHAAO, MTA3, OXER1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691333
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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