A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520184



Internal ID296520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69135663..69135727hg38UCSC Ensembl
chr17:67131804..67131868hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714256
Samples
Known GenesABCA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520184
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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