A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497417



Internal ID274451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60396638..60397326hg38UCSC Ensembl
chr11:60164111..60164799hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047805
Samples
Known GenesMS4A14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497417
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