A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730391



Internal ID21756712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:62631263..62631263hg38UCSC Ensembl
chr10:64391023..64391023hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249634, nssv17236342
Samples
Known GenesZNF365
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)nsv5730391
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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