A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724277



Internal ID21750598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185880406..185880406hg38UCSC Ensembl
chr4:186801560..186801560hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244585
Samples
Known GenesSORBS2
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)nsv5724277
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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