A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459071



Internal ID15172450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63154307..63236102hg38UCSC Ensembl
Innerchr20:61785659..61867454hg19UCSC Ensembl
Innerchr20:61256104..61337899hg18UCSC Ensembl
Innerchr20:61256104..61337899hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3881796
hg1981796
hg1881796
hg1781796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv519n27
Supporting Variantsnssv535910
SamplesHGDP01079
Known GenesBIRC7, MIR124-3, YTHDF1
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)nsv459071
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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