A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040438



Internal ID94666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123372082..123372126hg38UCSC Ensembl
chr10:125131598..125131642hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405620
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040438
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