A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17041212



Internal ID95177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127797455..127797575hg38UCSC Ensembl
chr10:129595719..129595839hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511164
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17041212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.889101


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