A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724713



Internal ID148379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50490420..50490548hg38UCSC Ensembl
chr17:48567781..48567909hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525377
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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