A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535840



Internal ID15164558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45726581..45749938hg38UCSC Ensembl
Innerchr20:44355220..44378577hg19UCSC Ensembl
Innerchr20:43788634..43811984hg18UCSC Ensembl
Innerchr20:43788634..43811984hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3823358
hg1923358
hg1823351
hg1723351
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458992
Supporting Variants
SamplesHGDP01376
Known Genes
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)nssv535840
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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