A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457547



Internal ID15517612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:78633949..78738685hg38UCSC Ensembl
Innerchr16:78667846..78772582hg19UCSC Ensembl
Innerchr16:77225347..77330083hg18UCSC Ensembl
Innerchr16:77225347..77330083hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38104737
hg19104737
hg18104737
hg17104737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534711
SamplesHGDP00139
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)nsv457547
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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