A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518357



Internal ID294749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40187759..40196955hg38UCSC Ensembl
chr17:38344011..38353207hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg389197
hg199197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713082
Samples
Known GenesMIR6867, RAPGEFL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518357
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer