A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534587



Internal ID15159528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8445407..8577134hg38UCSC Ensembl
Innerchr16:8495409..8627136hg19UCSC Ensembl
Innerchr16:8435410..8567137hg18UCSC Ensembl
Innerchr16:8435410..8567137hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38131728
hg19131728
hg18131728
hg17131728
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457390
Supporting Variants
SamplesHGDP00438
Known GenesTMEM114
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)nssv534587
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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