A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459086



Internal ID15172465
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv523n27
Supporting Variantsnssv535920
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)nsv459086
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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