A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv957196



Internal ID15904466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44739898..44740399hg38UCSC Ensembl
Innerchr22:45135778..45136279hg19UCSC Ensembl
Innerchr22:43514442..43514943hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38502
hg19502
hg18502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv589114
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)nssv957196
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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