A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718205



Internal ID21744526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136899383..136899383hg38UCSC Ensembl
chr2:137656953..137656953hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250142
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)nsv5718205
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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