A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727428



Internal ID21753749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:155325949..155325949hg38UCSC Ensembl
chr6:155647083..155647083hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg385998
hg195998
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234301, nssv17249615
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)nsv5727428
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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