A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520633



Internal ID15447926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124063847..124198659hg38UCSC Ensembl
Innerchr12:124548394..124683205hg19UCSC Ensembl
Innerchr12:123114347..123249158hg18UCSC Ensembl
Innerchr12:123073274..123208085hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38134813
hg19134812
hg18134812
hg17134812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697529
Samples
Known GenesZNF664-FAM101A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520633
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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