A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv443n27



Internal ID20132701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32408622..33104890hg38UCSC Ensembl
chr2:32633690..33329957hg19UCSC Ensembl
chr2:32487194..33183461hg18UCSC Ensembl
chr2:32545341..33241608hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38696269
hg19696268
hg18696268
hg17696268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456074, nsv456096, nsv456119, nsv456085
SamplesNINDS_147, HGDP00896, 1787431166_A, 1780854103_A
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
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)dgv443n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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