A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459023



Internal ID15519088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:55090083..55162620hg38UCSC Ensembl
Innerchr20:53706622..53779159hg19UCSC Ensembl
Innerchr20:53140029..53212566hg18UCSC Ensembl
Innerchr20:53140029..53212566hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3872538
hg1972538
hg1872538
hg1772538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535865
Samples1780862373_A
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)nsv459023
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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