A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv405n54



Internal ID20133829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103595831..103731434hg38UCSC Ensembl
chr1:104138453..104274056hg19UCSC Ensembl
chr1:103939976..104075579hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38135604
hg19135604
hg18135604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547006, nsv547012
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)dgv405n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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