A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv659270



Internal ID15049236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42751296..42788579hg38UCSC Ensembl
Innerchr2:42978436..43015719hg19UCSC Ensembl
Innerchr2:42831940..42869223hg18UCSC Ensembl
Innerchr2:42890087..42927370hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3837284
hg1937284
hg1837284
hg1737284
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)nssv659270
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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