A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv50n27



Internal ID22766779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190464283..190526877hg38UCSC Ensembl
chr1:190433413..190496007hg19UCSC Ensembl
chr1:188700036..188762630hg18UCSC Ensembl
chr1:187165070..187227664hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3862595
hg1962595
hg1862595
hg1762595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466772, nsv466750
SamplesHGDP00088, HGDP00963
Known GenesBRINP3
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)dgv50n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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