A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534687



Internal ID15159785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:68564104..68890598hg38UCSC Ensembl
Innerchr16:68598007..68924501hg19UCSC Ensembl
Innerchr16:67155508..67482002hg18UCSC Ensembl
Innerchr16:67155508..67482002hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38326495
hg19326495
hg18326495
hg17326495
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457515
Supporting Variants
SamplesHGDP00512
Known GenesCDH1, CDH3, TANGO6, ZFP90
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)nssv534687
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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