A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527188



Internal ID15454481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30133752..30185733hg38UCSC Ensembl
Innerchr22:30529741..30581722hg19UCSC Ensembl
Innerchr22:28859741..28911722hg18UCSC Ensembl
Innerchr22:28854295..28906276hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3851982
hg1951982
hg1851982
hg1751982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703584
Samples
Known GenesHORMAD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527188
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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