A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040957



Internal ID95020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103548388..103551376hg38UCSC Ensembl
chr10:105308145..105311133hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg382989
hg192989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504864
Supporting Variants
Samples
Known GenesNEURL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040957
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007719


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