A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535741



Internal ID15160539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14209133..14336744hg38UCSC Ensembl
Innerchr20:14189779..14317390hg19UCSC Ensembl
Innerchr20:14137779..14265390hg18UCSC Ensembl
Innerchr20:14137779..14265390hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38127612
hg19127612
hg18127612
hg17127612
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458872
Supporting Variants
SamplesHGDP00627
Known GenesFLRT3, MACROD2
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)nssv535741
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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