A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv306n27



Internal ID22767035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:31727716..32151995hg38UCSC Ensembl
chr15:32019919..32444196hg19UCSC Ensembl
chr15:29807211..30231488hg18UCSC Ensembl
chr15:29807211..30231488hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38424280
hg19424278
hg18424278
hg17424278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456750, nsv456753, nsv456756, nsv456754, nsv456755, nsv456760, nsv456757, nsv456758, nsv456752
Samples1780862263_A, NINDS_35, NINDS_182, NINDS_31, HGDP00148, HGDP00976, HGDP00474, HGDP00594, HGDP00564
Known GenesCHRNA7
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)dgv306n27
Frequency
Sample Size1557
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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