A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv435n54



Internal ID22768330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103627698..103755245hg38UCSC Ensembl
chr1:104170320..104297867hg19UCSC Ensembl
chr1:103971843..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38127548
hg19127548
hg18127548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547142, nsv547170, nsv547158, nsv547161, nsv547168
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)dgv435n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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