A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716094



Internal ID21742415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17623436..17623436hg38UCSC Ensembl
chr4:17625059..17625059hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg381739
hg191739
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249499
Samples
Known GenesMED28
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)nsv5716094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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