A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459003



Internal ID15519068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51117002..51144659hg38UCSC Ensembl
Innerchr20:49733539..49761196hg19UCSC Ensembl
Innerchr20:49166946..49194603hg18UCSC Ensembl
Innerchr20:49166946..49194603hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3827658
hg1927658
hg1827658
hg1727658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535848
Samples1780854341_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)nsv459003
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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