A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv310n223



Internal ID22803278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111604401..111633100hg38UCSC Ensembl
chr1:112147023..112175722hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3828700
hg1928700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6331645, nsv6326003
Samples
Known GenesLOC100129269, RAP1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv310n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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