A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724925



Internal ID21751246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92237947..92237947hg38UCSC Ensembl
chr1:92703504..92703504hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241871
Samples
Known GenesC1orf146
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)nsv5724925
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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