A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv352n27



Internal ID20132610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75505987..75554068hg38UCSC Ensembl
chr16:75539885..75587966hg19UCSC Ensembl
chr16:74097386..74145467hg18UCSC Ensembl
chr16:74097386..74145467hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3848082
hg1948082
hg1848082
hg1748082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457524, nsv457527, nsv457523, nsv457525, nsv457526, nsv457522
SamplesHGDP00912, HGDP00629, HGDP00738, HGDP00913, HGDP00924, HGDP00017
Known GenesCHST5, TMEM231
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)dgv352n27
Frequency
Sample Size1557
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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