A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498287



Internal ID275280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66364015..66364065hg38UCSC Ensembl
chr11:66131486..66131536hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045257
Samples
Known GenesSLC29A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498287
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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