A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723438



Internal ID21749759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51095497..51095497hg38UCSC Ensembl
chr5:50391331..50391331hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235230, nssv17250558
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)nsv5723438
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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