A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721165



Internal ID21747486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102925123..102925123hg38UCSC Ensembl
chr5:102260827..102260827hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg382936
hg192936
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240878
Samples
Known GenesPAM
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)nsv5721165
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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