A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704525



Internal ID15441177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33255196..33266640hg38UCSC Ensembl
Innerchr12:33408131..33419575hg19UCSC Ensembl
Innerchr12:33299398..33310842hg18UCSC Ensembl
Innerchr12:33299398..33310842hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3811445
hg1911445
hg1811445
hg1711445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528000
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704525
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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