A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729870



Internal ID21756191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37328872..37328872hg38UCSC Ensembl
chr4:37330494..37330494hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241142
Samples
Known GenesKIAA1239
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)nsv5729870
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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