A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716572



Internal ID21742893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51054313..51054313hg38UCSC Ensembl
chr14:51521031..51521031hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242134
Samples
Known GenesTRIM9
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)nsv5716572
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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