A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720667



Internal ID21746988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64439619..64439619hg38UCSC Ensembl
chr12:64833399..64833399hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg384195
hg194195
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246258, nssv17233740
Samples
Known GenesXPOT
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)nsv5720667
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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