A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717552



Internal ID21743873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:101845758..101845758hg38UCSC Ensembl
chr10:103605515..103605515hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236362, nssv17242730
Samples
Known GenesC10orf76
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)nsv5717552
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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