A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416377



Internal ID195605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34368905..34368947hg38UCSC Ensembl
chr18:31948869..31948911hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717258
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416377
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