A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724721



Internal ID148387
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 StatusS
Merged Variantsnsv5516511
Supporting Variants
Samples
Known GenesLUC7L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724721
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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