A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv433n54



Internal ID20133857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103622603..103750309hg38UCSC Ensembl
chr1:104165225..104292931hg19UCSC Ensembl
chr1:103966748..104094454hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38127707
hg19127707
hg18127707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547167, nsv547110, nsv547165, nsv547136
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv433n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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