A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535850



Internal ID15162270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:52060890..52082766hg38UCSC Ensembl
Innerchr20:50677429..50699305hg19UCSC Ensembl
Innerchr20:50110836..50132712hg18UCSC Ensembl
Innerchr20:50110836..50132712hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3821877
hg1921877
hg1821877
hg1721877
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459005
Supporting Variants
SamplesHGDP00925
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)nssv535850
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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