A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv622n27



Internal ID20132880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151796802..151877081hg38UCSC Ensembl
chr3:151514590..151594869hg19UCSC Ensembl
chr3:152997280..153077559hg18UCSC Ensembl
chr3:152997288..153077567hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3880280
hg1980280
hg1880280
hg1780280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460909, nsv460908
SamplesNINDS_204, 1780862401_A
Known GenesAADAC, MIR548H2, SUCNR1
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)dgv622n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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