A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv322n27



Internal ID20132580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:84869224..84919085hg38UCSC Ensembl
chr15:85412455..85462316hg19UCSC Ensembl
chr15:83213459..83263320hg18UCSC Ensembl
chr15:83213459..83263320hg17UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3849862
hg1949862
hg1849862
hg1749862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457221, nsv457222
SamplesHGDP00562, HGDP00564
Known GenesALPK3, SLC28A1
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)dgv322n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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