A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723748



Internal ID147414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47196203..47201289hg38UCSC Ensembl
chr19:47699460..47704546hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg385087
hg195087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521135
Supporting Variants
Samples
Known GenesSAE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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