A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151553



Internal ID15527820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22377389..22897847hg38UCSC Ensembl
Innerchr22:22731758..23240027hg19UCSC Ensembl
Innerchr22:21061758..21570027hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38520459
hg19508270
hg18508270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588430
Supporting Variants
SamplesHGDP00546
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)nssv1151553
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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