A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730697



Internal ID21757018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:30814649..30814649hg38UCSC Ensembl
chr10:31103578..31103578hg19UCSC Ensembl
Cytoband10p11.23
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 Variantsnssv17243031
Samples
Known Genes
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)nsv5730697
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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