A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523062



Internal ID15450355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52122567..52137785hg38UCSC Ensembl
Innerchr12:52516351..52531569hg19UCSC Ensembl
Innerchr12:50802618..50817836hg18UCSC Ensembl
Innerchr12:50802618..50817836hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3815219
hg1915219
hg1815219
hg1715219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698748
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523062
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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