A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459025



Internal ID15519090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56833797..56851305hg38UCSC Ensembl
Innerchr20:55408853..55426361hg19UCSC Ensembl
Innerchr20:54842260..54859768hg18UCSC Ensembl
Innerchr20:54842260..54859768hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3817509
hg1917509
hg1817509
hg1717509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535867
Samples1780862345_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)nsv459025
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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