A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727179



Internal ID21753500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:36322179..36322179hg38UCSC Ensembl
chr4:36323801..36323801hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382771
hg192771
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248788, nssv17240982
Samples
Known GenesDTHD1
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)nsv5727179
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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