A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17044661



Internal ID97515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18584724..18600214hg38UCSC Ensembl
chr11:18606271..18621761hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3815491
hg1915491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501133
Supporting Variants
Samples
Known GenesSPTY2D1-AS1, UEVLD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17044661
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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