A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1404n54



Internal ID20134828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120467056..120469022hg38UCSC Ensembl
chr10:122226568..122228534hg19UCSC Ensembl
chr10:122216558..122218524hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg381967
hg191967
hg181967
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv552220, nsv552221
Samples
Known GenesPPAPDC1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1404n54
Frequency
Sample Size17421
Observed Gain24
Observed Loss1446
Observed Complex0
Frequencyn/a


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