A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522435



Internal ID298702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17990565..18002821hg38UCSC Ensembl
chr19:18101374..18113630hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3812257
hg1912257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721992
Samples
Known GenesARRDC2, KCNN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522435
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