A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421149



Internal ID200234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6030939..6030990hg38UCSC Ensembl
chr20:6011585..6011636hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725911
Samples
Known GenesCRLS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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