A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv412n54



Internal ID20133836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103610478..103755245hg38UCSC Ensembl
chr1:104153100..104297867hg19UCSC Ensembl
chr1:103954623..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38144768
hg19144768
hg18144768
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547036, nsv547154, nsv547162, nsv547140
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)dgv412n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss11
Observed Complex0
Frequencyn/a


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