A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589223



Internal ID16029946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50539595..50619495hg38UCSC Ensembl
Innerchr22:50978024..51057923hg19UCSC Ensembl
Innerchr22:49324890..49404789hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3879901
hg1979900
hg1879900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957541
Samples
Known GenesCHKB, CHKB-AS1, CHKB-CPT1B, CPT1B, KLHDC7B, MAPK8IP2, SYCE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589223
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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