A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554446



Internal ID327633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30999357..30999408hg38UCSC Ensembl
chr18:28579323..28579374hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717049
Samples
Known GenesDSC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554446
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