A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053525



Internal ID103529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126799186..126799308hg38UCSC Ensembl
chr11:126669081..126669203hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143741
Supporting Variants
Samples
Known GenesKIRREL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053525
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.091093


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