A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515612



Internal ID15443223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25119093..25188243hg38UCSC Ensembl
Innerchr12:25272027..25341177hg19UCSC Ensembl
Innerchr12:25163294..25232444hg18UCSC Ensembl
Innerchr12:25163294..25232444hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3869151
hg1969151
hg1869151
hg1769151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688328, nssv692203, nssv664102
Samples
Known GenesCASC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515612
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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