A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458939



Internal ID15172318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:16587484..16604669hg38UCSC Ensembl
Innerchr20:16568129..16585314hg19UCSC Ensembl
Innerchr20:16516129..16533314hg18UCSC Ensembl
Innerchr20:16516129..16533314hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3817186
hg1917186
hg1817186
hg1717186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv508n27
Supporting Variantsnssv535793
SamplesHGDP00576
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)nsv458939
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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