A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14n54



Internal ID22767909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:934063..938178hg38UCSC Ensembl
chr1:869443..873558hg19UCSC Ensembl
chr1:859306..863421hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg384116
hg194116
hg184116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv544918, nsv544929, nsv544913
Samples
Known GenesSAMD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv14n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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