A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525190



Internal ID301363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67017135..67017533hg38UCSC Ensembl
chr17:65013251..65013649hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715511
Samples
Known GenesCACNG4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525190
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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