A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717492



Internal ID21743813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:93980133..93980133hg38UCSC Ensembl
chr4:94901284..94901284hg19UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg385998
hg195998
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243401, nssv17234808
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)nsv5717492
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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