A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv875n27



Internal ID22767604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:15562617..15573966hg38UCSC Ensembl
chr8:15420126..15431475hg19UCSC Ensembl
chr8:15464497..15475846hg18UCSC Ensembl
chr8:15464497..15475846hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3811350
hg1911350
hg1811350
hg1711350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465562, nsv465563
SamplesHGDP00619, HGDP00697
Known GenesTUSC3
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)dgv875n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer