A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv333n27



Internal ID20132591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:99789846..100224933hg38UCSC Ensembl
chr15:100330051..100765138hg19UCSC Ensembl
chr15:98147574..98582661hg18UCSC Ensembl
chr15:98147574..98582661hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38435088
hg19435088
hg18435088
hg17435088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457282, nsv457280
SamplesHGDP00684, HGDP00686
Known GenesADAMTS17, DNM1P46
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)dgv333n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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