A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521205



Internal ID15101812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46136668..46138781hg38UCSC Ensembl
Innerchr2:46363807..46365920hg19UCSC Ensembl
Innerchr2:46217311..46219424hg18UCSC Ensembl
Innerchr2:46275458..46277571hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382114
hg192114
hg182114
hg172114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688202, nssv685047
Samples
Known GenesPRKCE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521205
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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