A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv336n27



Internal ID20132594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1965120..2038584hg38UCSC Ensembl
chr16:2015121..2088585hg19UCSC Ensembl
chr16:1955122..2028586hg18UCSC Ensembl
chr16:1955122..2028586hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3873465
hg1973465
hg1873465
hg1773465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457345, nsv457344
SamplesHGDP00607, HGDP00433
Known GenesGFER, NOXO1, NPW, RNF151, SLC9A3R2, SNHG9, SNORA78, SYNGR3, TBL3, ZNF598
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)dgv336n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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