A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715462



Internal ID139128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65555019..65555216hg38UCSC Ensembl
chr17:63551137..63551334hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526959
Supporting Variants
Samples
Known GenesAXIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715462
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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