A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv395n54



Internal ID20133819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103563013..103683697hg38UCSC Ensembl
chr1:104105635..104226319hg19UCSC Ensembl
chr1:103907158..104027842hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38120685
hg19120685
hg18120685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546960, nsv546969, nsv546972, nsv546959
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv395n54
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