A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465179



Internal ID243048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121311381..121319381hg38UCSC Ensembl
chr4:122232536..122240536hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954554
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465179
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