A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721431



Internal ID21747752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103402571..103402571hg38UCSC Ensembl
chr8:104414799..104414799hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248412
Samples
Known GenesSLC25A32
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)nsv5721431
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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