A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729306



Internal ID21755627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105600225..105600225hg38UCSC Ensembl
chr2:106216682..106216682hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241778, nssv17238563
Samples
Known GenesLOC285000
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)nsv5729306
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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