A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728695



Internal ID21755016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36580617..36580617hg38UCSC Ensembl
chr1:37046218..37046218hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241291, nssv17235777
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)nsv5728695
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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