A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152088



Internal ID15530441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22386488..22897847hg38UCSC Ensembl
Innerchr22:22740855..23240027hg19UCSC Ensembl
Innerchr22:21070855..21570027hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38511360
hg19499173
hg18499173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588437
Supporting Variants
SamplesHGDP00938
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)nssv1152088
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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