A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718384



Internal ID142050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55478830..55478830hg38UCSC Ensembl
chr18:53146061..53146061hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415777
Supporting Variants
Samples
Known GenesTCF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718384
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.208333


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