A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv321n27



Internal ID20132579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82161942..82280914hg38UCSC Ensembl
chr15:82454283..82573255hg19UCSC Ensembl
chr15:80241338..80360310hg18UCSC Ensembl
chr15:80241338..80360310hg17UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38118973
hg19118973
hg18118973
hg17118973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457213, nsv457212
SamplesNINDS_115, 1780854325_A
Known GenesEFTUD1, FAM154B
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)dgv321n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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