A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526676



Internal ID302797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12364094..12364649hg38UCSC Ensembl
chr18:12364093..12364648hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716293
Samples
Known GenesAFG3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526676
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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