A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523082



Internal ID15103689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:94101057..94132981hg38UCSC Ensembl
Innerchr11:93834223..93866147hg19UCSC Ensembl
Innerchr11:93473871..93505795hg18UCSC Ensembl
Innerchr11:93473871..93505795hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3831925
hg1931925
hg1831925
hg1731925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698773
Samples
Known GenesHEPHL1, PANX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523082
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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