A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445898



Internal ID224236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129274104..129274327hg38UCSC Ensembl
chr3:128992947..128993170hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939143
Samples
Known GenesCOPG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445898
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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