A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716369



Internal ID140035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13420289..13420340hg38UCSC Ensembl
chr18:13420288..13420339hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427918
Supporting Variants
Samples
Known GenesLDLRAD4, LDLRAD4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716369
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003746


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