A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535870



Internal ID15509396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57719257..57732490hg38UCSC Ensembl
Innerchr20:56294313..56307546hg19UCSC Ensembl
Innerchr20:55727719..55740952hg18UCSC Ensembl
Innerchr20:55727719..55740952hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3813234
hg1913234
hg1813234
hg1713234
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459028
Supporting Variants
SamplesHGDP00998
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)nssv535870
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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