A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv319n27



Internal ID22767048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55981248..56032253hg38UCSC Ensembl
chr15:56273446..56324451hg19UCSC Ensembl
chr15:54060738..54111743hg18UCSC Ensembl
chr15:54060738..54111743hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3851006
hg1951006
hg1851006
hg1751006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457161, nsv457160
Samples1780862416_A, 1780862101_A
Known GenesNEDD4
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)dgv319n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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