A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv727n27



Internal ID20132985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149851167..149881249hg38UCSC Ensembl
chr5:149230730..149260812hg19UCSC Ensembl
chr5:149210923..149241005hg18UCSC Ensembl
chr5:149210923..149241005hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3830083
hg1930083
hg1830083
hg1730083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462486, nsv462485
SamplesHGDP00161, HGDP00155
Known GenesPDE6A, PPARGC1B
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)dgv727n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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