A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722749



Internal ID146415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:31137451..31137516hg38UCSC Ensembl
chr19:31628357..31628422hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519811
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722749
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