A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723375



Internal ID147041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40009796..40010010hg38UCSC Ensembl
chr19:40515703..40515917hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533418
Supporting Variants
Samples
Known GenesZNF546
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723375
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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