A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv805n54



Internal ID20134229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212284975..212286281hg38UCSC Ensembl
chr1:212458317..212459623hg19UCSC Ensembl
chr1:210524940..210526246hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381307
hg191307
hg181307
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549142, nsv549144
Samples
Known GenesPPP2R5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv805n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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