A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535817



Internal ID15511167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33779897..33839036hg38UCSC Ensembl
Innerchr20:32367703..32426842hg19UCSC Ensembl
Innerchr20:31831364..31890503hg18UCSC Ensembl
Innerchr20:31831364..31890503hg17UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3859140
hg1959140
hg1859140
hg1759140
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458965
Supporting Variants
SamplesHGDP01364
Known GenesCHMP4B, ZNF341
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)nssv535817
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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