A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716391



Internal ID21742712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48721845..48721845hg38UCSC Ensembl
chr8:49634404..49634404hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238900
Samples
Known GenesEFCAB1
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)nsv5716391
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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