A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555148



Internal ID328314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63461534..63461585hg38UCSC Ensembl
chr11:63229006..63229057hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047957
Samples
Known GenesHRASLS5, MIR3680-1, MIR3680-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555148
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