A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv437n54



Internal ID22768332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103645686..103719276hg38UCSC Ensembl
chr1:104188308..104261898hg19UCSC Ensembl
chr1:103989831..104063421hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3873591
hg1973591
hg1873591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547171, nsv547169
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv437n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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