A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524525



Internal ID15105132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1163197..1257345hg38UCSC Ensembl
Innerchr12:1272363..1366511hg19UCSC Ensembl
Innerchr12:1142624..1236772hg18UCSC Ensembl
Innerchr12:1142624..1236772hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3894149
hg1994149
hg1894149
hg1794149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700474
Samples
Known GenesERC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524525
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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