A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv957198



Internal ID15904468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44739898..44741427hg38UCSC Ensembl
Innerchr22:45135778..45137307hg19UCSC Ensembl
Innerchr22:43514442..43515971hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381530
hg191530
hg181530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv589116
Supporting Variants
Samples
Known GenesPRR5-ARHGAP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv957198
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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