A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458944



Internal ID15172323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:17919443..18026062hg38UCSC Ensembl
Innerchr20:17900087..18006706hg19UCSC Ensembl
Innerchr20:17848087..17954706hg18UCSC Ensembl
Innerchr20:17848087..17954706hg17UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38106620
hg19106620
hg18106620
hg17106620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535798
SamplesHGDP01365
Known GenesMGME1, OVOL2, SNORD17, SNX5
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)nsv458944
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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