A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv345n27



Internal ID20132603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15883875..15931893hg38UCSC Ensembl
chr16:15977732..16025750hg19UCSC Ensembl
chr16:15885233..15933251hg18UCSC Ensembl
chr16:15885233..15933251hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3848019
hg1948019
hg1848019
hg1748019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457434, nsv457433, nsv457435, nsv457430, nsv457431
SamplesHGDP00911, HGDP00907, HGDP00928, HGDP00906, HGDP00941
Known GenesFOPNL
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)dgv345n27
Frequency
Sample Size1557
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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