A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562069



Internal ID335033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120699127..120699178hg38UCSC Ensembl
chr3:120417974..120418025hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938035
Samples
Known GenesRABL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562069
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