A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535813



Internal ID15163475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31245806..31325049hg38UCSC Ensembl
Innerchr20:29833609..29912852hg19UCSC Ensembl
Innerchr20:29297270..29376513hg18UCSC Ensembl
Innerchr20:29297270..29376513hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3879244
hg1979244
hg1879244
hg1779244
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458960
Supporting Variants
SamplesHGDP01199
Known GenesDEFB115, DEFB116
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)nssv535813
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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