A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715904



Internal ID139570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3046382..3046433hg38UCSC Ensembl
chr18:3046380..3046431hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425461
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715904
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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