A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589117



Internal ID16376526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44739898..44741601hg38UCSC Ensembl
Innerchr22:45135778..45137481hg19UCSC Ensembl
Innerchr22:43514442..43516145hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381704
hg191704
hg181704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8123n54
Supporting Variantsnssv957201, nssv957202, nssv957200, nssv957199, nssv957203
Samples
Known GenesPRR5-ARHGAP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589117
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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