A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588882



Internal ID16029605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29371936..29411866hg38UCSC Ensembl
Innerchr22:29767925..29807855hg19UCSC Ensembl
Innerchr22:28097925..28137855hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3839931
hg1939931
hg1839931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151735, nssv1151736
SamplesHGDP01276, HGDP01269
Known GenesAP1B1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588882
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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