A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520995



Internal ID15101602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:100293225..100810480hg38UCSC Ensembl
Innerchr11:100163957..100681211hg19UCSC Ensembl
Innerchr11:99669167..100186421hg18UCSC Ensembl
Innerchr11:99669167..100186421hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38517256
hg19517255
hg18517255
hg17517255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697727
Samples
Known GenesARHGAP42, CNTN5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520995
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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