A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722842



Internal ID146508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32854875..32856408hg38UCSC Ensembl
chr19:33345781..33347314hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381534
hg191534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518016
Supporting Variants
Samples
Known GenesSLC7A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722842
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