A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725546



Internal ID21751867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112519595..112519595hg38UCSC Ensembl
chr2:113277172..113277172hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383667
hg193667
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251921
Samples
Known GenesTTL
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)nsv5725546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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