A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524456



Internal ID15451749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74768377..75012177hg38UCSC Ensembl
Innerchr12:75162157..75405957hg19UCSC Ensembl
Innerchr12:73448424..73692224hg18UCSC Ensembl
Innerchr12:73448424..73692224hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38243801
hg19243801
hg18243801
hg17243801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700389
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524456
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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