A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv401n54



Internal ID20133825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103583972..103760817hg38UCSC Ensembl
chr1:104126594..104303439hg19UCSC Ensembl
chr1:103928117..104104962hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38176846
hg19176846
hg18176846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546998, nsv547143, nsv547148, nsv547144, nsv547030, nsv547123, nsv547156, nsv547033, nsv547014, nsv547105, nsv546997, nsv547132, nsv547015, nsv547153, nsv547077, nsv547064, nsv547112, nsv546987, nsv547031, nsv547121, nsv547032, nsv547065, nsv546996, nsv547134, nsv547133, nsv546999, nsv547155, nsv547107, nsv546984, nsv547035
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)dgv401n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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