A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535729



Internal ID15163466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2224165..2391136hg38UCSC Ensembl
Innerchr20:2204811..2371782hg19UCSC Ensembl
Innerchr20:2152811..2319782hg18UCSC Ensembl
Innerchr20:2152811..2319782hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38166972
hg19166972
hg18166972
hg17166972
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458850
Supporting Variants
SamplesHGDP01197
Known GenesTGM3, TGM6
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)nssv535729
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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