A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv883n27



Internal ID20133141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43169482..43936548hg38UCSC Ensembl
chr8:43024625..43791691hg19UCSC Ensembl
chr8:43143782..43910848hg18UCSC Ensembl
chr8:43143782..43910848hg17UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38767067
hg19767067
hg18767067
hg17767067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465643, nsv465641, nsv465640, nsv465642, nsv465645
SamplesHGDP00608, HGDP00650, HGDP00258, HGDP00776, HGDP00694
Known GenesHGSNAT, POTEA
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)dgv883n27
Frequency
Sample Size1557
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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