A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv53n54



Internal ID20133477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3167468..3169900hg38UCSC Ensembl
chr1:3084032..3086464hg19UCSC Ensembl
chr1:3073892..3076324hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382433
hg192433
hg182433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545103, nsv545111, nsv545106
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv53n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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