A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723794



Internal ID21750115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61694821..61694821hg38UCSC Ensembl
chr11:61462293..61462293hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241809
Samples
Known GenesDAGLA
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5723794
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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