A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719755



Internal ID21746076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47530737..47530737hg38UCSC Ensembl
chr8:48443299..48443299hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233487
Samples
Known GenesSPIDR
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)nsv5719755
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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