A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516511



Internal ID292966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50725354..50725429hg38UCSC Ensembl
chr17:48802715..48802790hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724721
Samples
Known GenesLUC7L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516511
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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