A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv875n54



Internal ID20134299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242102117..242693552hg38UCSC Ensembl
chr1:242265419..242856854hg19UCSC Ensembl
chr1:240332042..240923477hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38591436
hg19591436
hg18591436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549463, nsv549464
Samples
Known GenesPLD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv875n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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