A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730281



Internal ID21756602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40772510..40772510hg38UCSC Ensembl
chr6:40740249..40740249hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235758, nssv17241446
Samples
Known Genes
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)nsv5730281
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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