A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv901n27



Internal ID22767630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139765008..139810722hg38UCSC Ensembl
chr8:140777251..140822965hg19UCSC Ensembl
chr8:140846433..140892147hg18UCSC Ensembl
chr8:140846433..140892147hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3845715
hg1945715
hg1845715
hg1745715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465947, nsv465948
SamplesNINDS_111, HGDP00527
Known GenesTRAPPC9
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)dgv901n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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