A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730423



Internal ID21756744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96780509..96780509hg38UCSC Ensembl
chr8:97792737..97792737hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241925, nssv17240546
Samples
Known GenesCPQ
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)nsv5730423
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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