A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv408n54



Internal ID20133832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103597390..103737122hg38UCSC Ensembl
chr1:104140012..104279744hg19UCSC Ensembl
chr1:103941535..104081267hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38139733
hg19139733
hg18139733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547013, nsv547011
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)dgv408n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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