A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152114



Internal ID15527765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22416581..22906870hg38UCSC Ensembl
Innerchr22:22770917..23249040hg19UCSC Ensembl
Innerchr22:21100917..21579040hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38490290
hg19478124
hg18478124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588459
Supporting Variants
SamplesHGDP00542
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152114
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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