A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588416



Internal ID16029139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22362208..22897847hg38UCSC Ensembl
Innerchr22:22716568..23240027hg19UCSC Ensembl
Innerchr22:21046568..21570027hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38535640
hg19523460
hg18523460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8005n54
Supporting Variantsnssv1151536, nssv1151535
SamplesHGDP00600, HGDP00517
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)nsv588416
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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