A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520570



Internal ID15447863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4820621..4845425hg38UCSC Ensembl
Innerchr12:4929787..4954591hg19UCSC Ensembl
Innerchr12:4800048..4824852hg18UCSC Ensembl
Innerchr12:4800048..4824852hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3824805
hg1924805
hg1824805
hg1724805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697493
Samples
Known GenesKCNA6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520570
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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