A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536092



Internal ID15507392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16551808..16671721hg38UCSC Ensembl
Innerchr22:17032698..17152611hg19UCSC Ensembl
Innerchr22:15412698..15532611hg18UCSC Ensembl
Innerchr22:15407252..15527165hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38119914
hg19119914
hg18119914
hg17119914
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459319
Supporting Variants
SamplesHGDP00653
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv536092
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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