A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547169



Internal ID321047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17643805..17646789hg38UCSC Ensembl
chr22:18126571..18129555hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382985
hg192985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727518
Samples
Known GenesBCL2L13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547169
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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