A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714256



Internal ID137922
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 StatusS
Merged Variantsnsv5520184
Supporting Variants
Samples
Known GenesABCA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714256
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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