A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040419



Internal ID94653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123183047..123185195hg38UCSC Ensembl
chr10:124942563..124944711hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506972
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040419
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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