A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520797



Internal ID15448090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52421681..52434655hg38UCSC Ensembl
Innerchr12:52815465..52828439hg19UCSC Ensembl
Innerchr12:51101732..51114706hg18UCSC Ensembl
Innerchr12:51101732..51114706hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3812975
hg1912975
hg1812975
hg1712975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697617
Samples
Known GenesKRT75
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520797
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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