A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724727



Internal ID21751048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101067126..101067126hg38UCSC Ensembl
chr12:101460904..101460904hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244381
Samples
Known GenesANO4
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)nsv5724727
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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