A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv430n54



Internal ID20133854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103613322..103657364hg38UCSC Ensembl
chr1:104155944..104199986hg19UCSC Ensembl
chr1:103957467..104001509hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3844043
hg1944043
hg1844043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547096, nsv547113
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)dgv430n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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