A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700474



Internal ID15090440
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524525
Supporting Variants
Samples
Known GenesERC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700474
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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