A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv323n27



Internal ID20132581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:85282336..85600273hg38UCSC Ensembl
chr15:85825567..86143504hg19UCSC Ensembl
chr15:83626571..83944508hg18UCSC Ensembl
chr15:83626571..83944508hg17UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38317938
hg19317938
hg18317938
hg17317938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457225, nsv457226
Samples1798860114_A, 1782681216_A
Known GenesAKAP13
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)dgv323n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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