A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717271



Internal ID140937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34710614..34710665hg38UCSC Ensembl
chr18:32290578..32290629hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429939
Supporting Variants
Samples
Known GenesDTNA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717271
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