A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458999



Internal ID15172378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47828020..48524983hg38UCSC Ensembl
Innerchr20:46456764..47141521hg19UCSC Ensembl
Innerchr20:45890171..46574928hg18UCSC Ensembl
Innerchr20:45890171..46574928hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38696964
hg19684758
hg18684758
hg17684758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535846
SamplesHGDP01412
Known GenesLINC00494
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)nsv458999
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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