A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450983



Internal ID229176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152471771..152475740hg38UCSC Ensembl
chr3:152189560..152193529hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg383970
hg193970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939044
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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