A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458945



Internal ID15519010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:18005414..18038630hg38UCSC Ensembl
Innerchr20:17986058..18019274hg19UCSC Ensembl
Innerchr20:17934058..17967274hg18UCSC Ensembl
Innerchr20:17934058..17967274hg17UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3833217
hg1933217
hg1833217
hg1733217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535799
SamplesHGDP00072
Known GenesOVOL2
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)nsv458945
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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