A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458990



Internal ID15172369
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv512n27
Supporting Variantsnssv535838
SamplesHGDP00806
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)nsv458990
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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