A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714250



Internal ID137916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69089481..69098158hg38UCSC Ensembl
chr17:67085622..67094299hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg388678
hg198678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522893
Supporting Variants
Samples
Known GenesABCA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714250
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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