A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv431n54



Internal ID20133855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103613322..103766047hg38UCSC Ensembl
chr1:104155944..104308669hg19UCSC Ensembl
chr1:103957467..104110192hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38152726
hg19152726
hg18152726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547157, nsv547124, nsv547111, nsv547097, nsv547138, nsv547163, nsv547139, nsv547122, nsv547120
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)dgv431n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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