A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17044929



Internal ID97698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:24543208..24543208hg38UCSC Ensembl
chr11:24564754..24564754hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555433
Supporting Variants
Samples
Known GenesLUZP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17044929
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008951


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