A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554938



Internal ID328107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31786002..31786053hg38UCSC Ensembl
chr18:29365965..29366016hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717095
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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