A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731029



Internal ID154695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:13861568..13861619hg38UCSC Ensembl
chr20:13842214..13842265hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414761
Supporting Variants
Samples
Known GenesSEL1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731029
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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