A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730944



Internal ID21757265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:159455275..159455275hg38UCSC Ensembl
chr6:159876307..159876307hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381515
hg191515
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239459, nssv17234175
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)nsv5730944
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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