A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704628



Internal ID128294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11975295..11975738hg38UCSC Ensembl
chr16:12069152..12069595hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527078
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704628
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