A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447682



Internal ID225978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160429476..160429549hg38UCSC Ensembl
chr3:160147264..160147337hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942262
Samples
Known GenesSMC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer