A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725473



Internal ID21751794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53016776..53016776hg38UCSC Ensembl
chr6:52881574..52881574hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248959
Samples
Known GenesICK
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)nsv5725473
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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