A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722500



Internal ID21748821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39607567..39607567hg38UCSC Ensembl
chr4:39609187..39609187hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg385602
hg195602
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234409
Samples
Known GenesSMIM14
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)nsv5722500
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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