A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588945



Internal ID16376354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:34572622..34665571hg38UCSC Ensembl
Innerchr22:34968614..35061563hg19UCSC Ensembl
Innerchr22:33298614..33391563hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3892950
hg1992950
hg1892950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv954751
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588945
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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