A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522682



Internal ID298944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37968458..37976635hg38UCSC Ensembl
chr19:38459098..38467275hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg388178
hg198178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723226
Samples
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522682
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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