A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458864



Internal ID15518929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8932617..8964988hg38UCSC Ensembl
Innerchr20:8913264..8945635hg19UCSC Ensembl
Innerchr20:8861264..8893635hg18UCSC Ensembl
Innerchr20:8861264..8893635hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3832372
hg1932372
hg1832372
hg1732372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535736
Samples1780862528_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)nsv458864
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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