A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4874n223



Internal ID22807842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52992001..53045200hg38UCSC Ensembl
chr3:53026017..53079216hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3853200
hg1953200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6360341, nsv6372864
Samples
Known GenesSFMBT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4874n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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