A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723224



Internal ID146890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37960702..37964750hg38UCSC Ensembl
chr19:38451342..38455390hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg384049
hg194049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514646
Supporting Variants
Samples
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723224
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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