A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4989n223



Internal ID22807957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:118994301..119095100hg38UCSC Ensembl
chr3:118713148..118813947hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg38100800
hg19100800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6367779, nsv6362156
Samples
Known GenesIGSF11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4989n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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