A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589125



Internal ID16029848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45209674..45252965hg38UCSC Ensembl
Innerchr22:45605555..45648846hg19UCSC Ensembl
Innerchr22:43984219..44027510hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3843292
hg1943292
hg1843292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957211
Samples
Known GenesKIAA0930
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589125
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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