A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721915



Internal ID145581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17070835..17071725hg38UCSC Ensembl
chr19:17181645..17182535hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38891
hg19891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533475
Supporting Variants
Samples
Known GenesHAUS8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721915
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