A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730703



Internal ID21757024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236547266..236547266hg38UCSC Ensembl
chr2:237455909..237455909hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238483
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)nsv5730703
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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