A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv951n27



Internal ID20133209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133156364..133320327hg38UCSC Ensembl
chr9:136031751..136187163hg19UCSC Ensembl
chr9:135021572..135176984hg18UCSC Ensembl
chr9:133061305..133216717hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38163964
hg19155413
hg18155413
hg17155413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466613, nsv466614
SamplesHGDP00545, HGDP00547
Known GenesABO, GBGT1, OBP2B
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)dgv951n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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