A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417116



Internal ID196321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41758045..41758050hg38UCSC Ensembl
chr17:39914297..39914302hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713205
Samples
Known GenesJUP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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