A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv420n54



Internal ID20133844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103611243..103731434hg38UCSC Ensembl
chr1:104153865..104274056hg19UCSC Ensembl
chr1:103955388..104075579hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38120192
hg19120192
hg18120192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547084, nsv547061, nsv547137, nsv547063, nsv547119, nsv547062
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)dgv420n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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