A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457553



Internal ID15517618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79052900..79061951hg38UCSC Ensembl
Innerchr16:79086797..79095848hg19UCSC Ensembl
Innerchr16:77644298..77653349hg18UCSC Ensembl
Innerchr16:77644298..77653349hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg389052
hg199052
hg189052
hg179052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534716
SamplesHGDP00765
Known GenesWWOX
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)nsv457553
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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