A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719170



Internal ID21745491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24065062..24065062hg38UCSC Ensembl
chr12:24217996..24217996hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242488, nssv17237535
Samples
Known GenesSOX5
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)nsv5719170
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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