A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458954



Internal ID15519019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:24429559..24450589hg38UCSC Ensembl
Innerchr20:24410195..24431225hg19UCSC Ensembl
Innerchr20:24358195..24379225hg18UCSC Ensembl
Innerchr20:24358195..24379225hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3821031
hg1921031
hg1821031
hg1721031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535807
Samples1782681114_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)nsv458954
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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