A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687022



Internal ID15076988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54346595..54355050hg38UCSC Ensembl
Innerchr12:54740379..54748834hg19UCSC Ensembl
Innerchr12:53026646..53035101hg18UCSC Ensembl
Innerchr12:53026646..53035101hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg388456
hg198456
hg188456
hg178456
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520202
Supporting Variants
Samples
Known GenesCOPZ1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687022
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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