A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535920



Internal ID15160736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63741460..63778360hg38UCSC Ensembl
Innerchr20:62372813..62409713hg19UCSC Ensembl
Innerchr20:61843257..61880157hg18UCSC Ensembl
Innerchr20:61843257..61880157hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3836901
hg1936901
hg1836901
hg1736901
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459086
Supporting Variants
SamplesHGDP00655
Known GenesSLC2A4RG, ZBTB46
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)nssv535920
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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