A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151544



Internal ID15531330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22363449..22892612hg38UCSC Ensembl
Innerchr22:22717809..23234792hg19UCSC Ensembl
Innerchr22:21047809..21564792hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38529164
hg19516984
hg18516984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588421
Supporting Variants
SamplesHGDP01084
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)nssv1151544
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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