A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520202



Internal ID15100809
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv678294, nssv687022, nssv676793, nssv663068, nssv661710
Samples
Known GenesCOPZ1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520202
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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