A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503134



Internal ID279976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30330094..30330344hg38UCSC Ensembl
chr11:30351641..30351891hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046019
Samples
Known GenesARL14EP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503134
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