A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv340n27



Internal ID20132598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8445407..8577134hg38UCSC Ensembl
chr16:8495409..8627136hg19UCSC Ensembl
chr16:8435410..8567137hg18UCSC Ensembl
chr16:8435410..8567137hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38131728
hg19131728
hg18131728
hg17131728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457388, nsv457390, nsv457389
SamplesHGDP00438, HGDP00407, HGDP00397
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)dgv340n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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