A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17020363



Internal ID81207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:3231085..3231136hg38UCSC Ensembl
chr9:3231085..3231136hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556144
Supporting Variants
Samples
Known GenesRFX3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17020363
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