A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497778



Internal ID274802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:50105500..50722787hg38UCSC Ensembl
chr11:50064671..50681958hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38617288
hg19617288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047530
Samples
Known GenesLOC441601, LOC646813
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497778
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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