A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716984



Internal ID21743305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233314066..233314066hg38UCSC Ensembl
chr2:234222712..234222712hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241394, nssv17233329
Samples
Known GenesSAG
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)nsv5716984
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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