A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536555



Internal ID15508896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43948896..44098586hg38UCSC Ensembl
Innerchr22:44344776..44494466hg19UCSC Ensembl
Innerchr22:42676109..42825799hg18UCSC Ensembl
Innerchr22:42669677..42819367hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38149691
hg19149691
hg18149691
hg17149691
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459895
Supporting Variants
SamplesHGDP00913
Known GenesPARVB, SAMM50
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)nssv536555
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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