A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714448



Internal ID138114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72738106..72740253hg38UCSC Ensembl
chr17:70734245..70736392hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg382148
hg192148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526890
Supporting Variants
Samples
Known GenesSLC39A11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00812


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