A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457548



Internal ID15517613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:78654247..78827482hg38UCSC Ensembl
Innerchr16:78688144..78861379hg19UCSC Ensembl
Innerchr16:77245645..77418880hg18UCSC Ensembl
Innerchr16:77245645..77418880hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38173236
hg19173236
hg18173236
hg17173236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534712
SamplesHGDP00655
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)nsv457548
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer