A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520791



Internal ID15448084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4251423..4264762hg38UCSC Ensembl
Innerchr12:4360589..4373928hg19UCSC Ensembl
Innerchr12:4230850..4244189hg18UCSC Ensembl
Innerchr12:4230850..4244189hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3813340
hg1913340
hg1813340
hg1713340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694401
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520791
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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