A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589126



Internal ID16376535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45220597..45229184hg38UCSC Ensembl
Innerchr22:45616478..45625065hg19UCSC Ensembl
Innerchr22:43995142..44003729hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg388588
hg198588
hg188588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957212
Samples
Known GenesKIAA0930
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589126
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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