A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716390



Internal ID140056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13688286..13688337hg38UCSC Ensembl
chr18:13688285..13688336hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418537
Supporting Variants
Samples
Known GenesFAM210A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716390
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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