A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730294



Internal ID21756615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:32000216..32000216hg38UCSC Ensembl
chr11:32021762..32021762hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381479
hg191479
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251150
Samples
Known Genes
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)nsv5730294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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