A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719478



Internal ID21745799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70866956..70866956hg38UCSC Ensembl
chr6:71576659..71576659hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246715
Samples
Known GenesB3GAT2
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)nsv5719478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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