A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414761



Internal ID194029
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 StatusM
Merged Variants
Supporting Variantsnssv17731029
Samples
Known GenesSEL1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414761
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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