A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725716



Internal ID21752037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46851195..46851195hg38UCSC Ensembl
chr1:47316867..47316867hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381815
hg191815
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233613
Samples
Known GenesCYP4Z2P
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)nsv5725716
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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