A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588076



Internal ID16375485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16674094..16813361hg38UCSC Ensembl
Innerchr22:17154984..17294251hg19UCSC Ensembl
Innerchr22:15534984..15674251hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38139268
hg19139268
hg18139268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7947n54
Supporting Variantsnssv949515, nssv949516, nssv949514
Samples
Known GenesANKRD62P1-PARP4P3, XKR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588076
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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