A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458937



Internal ID15172316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:16586557..16604669hg38UCSC Ensembl
Innerchr20:16567202..16585314hg19UCSC Ensembl
Innerchr20:16515202..16533314hg18UCSC Ensembl
Innerchr20:16515202..16533314hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3818113
hg1918113
hg1818113
hg1718113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv508n27
Supporting Variantsnssv535791
SamplesHGDP00934
Known Genes
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)nsv458937
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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