A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458943



Internal ID15172322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:17610028..17630754hg38UCSC Ensembl
Innerchr20:17590673..17611399hg19UCSC Ensembl
Innerchr20:17538673..17559399hg18UCSC Ensembl
Innerchr20:17538673..17559399hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3820727
hg1920727
hg1820727
hg1720727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535797
SamplesHGDP00515
Known GenesRRBP1
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)nsv458943
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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