A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589067



Internal ID16376476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42392310..42484955hg38UCSC Ensembl
Innerchr22:42788316..42880961hg19UCSC Ensembl
Innerchr22:41118260..41210905hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3892646
hg1992646
hg1892646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8116n54
Supporting Variantsnssv957150
Samples
Known GenesNFAM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589067
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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