A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048549



Internal ID100242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76545460..76545469hg38UCSC Ensembl
chr11:76256504..76256513hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548638
Supporting Variants
Samples
Known GenesC11orf30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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