A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469462



Internal ID247247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169749286..169749762hg38UCSC Ensembl
chr5:169176290..169176766hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978583
Samples
Known GenesDOCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469462
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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