A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717924



Internal ID21744245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63754910..63754910hg38UCSC Ensembl
chr18:61422144..61422144hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg382067
hg192067
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237419
Samples
Known GenesSERPINB7
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5717924
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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