A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv341n27



Internal ID20132599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8724825..8864606hg38UCSC Ensembl
chr16:8818682..8958463hg19UCSC Ensembl
chr16:8726183..8865964hg18UCSC Ensembl
chr16:8726183..8865964hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38139782
hg19139782
hg18139782
hg17139782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457395, nsv457397
SamplesHGDP01291, HGDP01063
Known GenesABAT, CARHSP1, PMM2, TMEM186
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)dgv341n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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