A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv308n27



Internal ID22767037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:32081490..32151995hg38UCSC Ensembl
chr15:32373693..32444196hg19UCSC Ensembl
chr15:30160985..30231488hg18UCSC Ensembl
chr15:30160985..30231488hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg3870506
hg1970504
hg1870504
hg1770504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456776, nsv456777, nsv456772, nsv456778
SamplesHGDP00568, HGDP00575, HGDP00599, HGDP00562
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)dgv308n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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