A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17039988



Internal ID94378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103151315..103151352hg38UCSC Ensembl
chr10:104911072..104911109hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544219
Supporting Variants
Samples
Known GenesNT5C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17039988
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