A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv318n27



Internal ID20132576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:53598165..54164557hg38UCSC Ensembl
chr15:53890362..54456754hg19UCSC Ensembl
chr15:51677654..52244046hg18UCSC Ensembl
chr15:51677654..52244046hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38566393
hg19566393
hg18566393
hg17566393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457144, nsv457145
SamplesHGDP00726, HGDP00130
Known GenesUNC13C, WDR72
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)dgv318n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer