A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv416n54



Internal ID20133840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103611144..103684099hg38UCSC Ensembl
chr1:104153766..104226721hg19UCSC Ensembl
chr1:103955289..104028244hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3872956
hg1972956
hg1872956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547104, nsv547060, nsv547059, nsv547102, nsv547117, nsv547106, nsv547083, nsv547109, nsv547043, nsv547130
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)dgv416n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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