A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534713



Internal ID15502310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:78877204..78948438hg38UCSC Ensembl
Innerchr16:78911101..78982335hg19UCSC Ensembl
Innerchr16:77468602..77539836hg18UCSC Ensembl
Innerchr16:77468602..77539836hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3871235
hg1971235
hg1871235
hg1771235
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457549
Supporting Variants
Samples1780854295_A
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)nssv534713
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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