A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522709



Internal ID15103316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33728990..33735167hg38UCSC Ensembl
Innerchr22:34124976..34131153hg19UCSC Ensembl
Innerchr22:32454976..32461153hg18UCSC Ensembl
Innerchr22:32449530..32455707hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386178
hg196178
hg186178
hg176178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv706121
Samples
Known GenesLARGE, LARGE-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522709
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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