A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942219



Internal ID22717653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5927635..5934110hg38UCSC Ensembl
chr18:5927634..5934109hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386476
hg196476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386152
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942219
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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