A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv445n54



Internal ID20133869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103687506..103755245hg38UCSC Ensembl
chr1:104230128..104297867hg19UCSC Ensembl
chr1:104031651..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3867740
hg1967740
hg1867740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547202, nsv547203, nsv547201
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)dgv445n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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