A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537978



Internal ID313161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20271256..20318300hg38UCSC Ensembl
chr22:20258779..20305823hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3847045
hg1947045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727695
Samples
Known GenesDGCR6L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537978
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