A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713341



Internal ID137007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45054500..45057055hg38UCSC Ensembl
chr17:43131868..43134423hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382556
hg192556
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525889
Supporting Variants
Samples
Known GenesDCAKD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713341
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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