A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458841



Internal ID15172220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:380145..422066hg38UCSC Ensembl
Innerchr20:360789..402710hg19UCSC Ensembl
Innerchr20:308789..350710hg18UCSC Ensembl
Innerchr20:308789..350710hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3841922
hg1941922
hg1841922
hg1741922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535723
Samples1780862399_A
Known GenesRBCK1, TRIB3
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)nsv458841
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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