A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458942



Internal ID15172321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:16587484..16608358hg38UCSC Ensembl
Innerchr20:16568129..16589003hg19UCSC Ensembl
Innerchr20:16516129..16537003hg18UCSC Ensembl
Innerchr20:16516129..16537003hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3820875
hg1920875
hg1820875
hg1720875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv508n27
Supporting Variantsnssv535796
SamplesHGDP00912
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)nsv458942
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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