A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520927



Internal ID15448220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43154143..43307985hg38UCSC Ensembl
Innerchr22:43550149..43703991hg19UCSC Ensembl
Innerchr22:41880093..42033935hg18UCSC Ensembl
Innerchr22:41874647..42028489hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38153843
hg19153843
hg18153843
hg17153843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683364, nssv703585, nssv691876, nssv677817, nssv703654, nssv682706
Samples
Known GenesSCUBE1, TSPO, TTLL12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520927
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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