A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589114



Internal ID16029837
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 StatusM
Merged Variants
Supporting Variantsnssv957195, nssv957196
Samples
Known GenesPRR5-ARHGAP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589114
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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