A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724700



Internal ID148366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50305860..50310355hg38UCSC Ensembl
chr17:48383221..48387716hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg384496
hg194496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525557
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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