A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714267



Internal ID137933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69300857..69329384hg38UCSC Ensembl
chr17:67296998..67325525hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3828528
hg1928528
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519261
Supporting Variants
Samples
Known GenesABCA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714267
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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