A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv308n223



Internal ID22803276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111133301..111146100hg38UCSC Ensembl
chr1:111675923..111688722hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3812800
hg1912800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6318000, nsv6330686, nsv6332557
Samples
Known GenesCEPT1, DRAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv308n223
Frequency
Sample Size19652
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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