A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716178



Internal ID21742499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116743313..116743313hg38UCSC Ensembl
chr8:117755552..117755552hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249152
Samples
Known GenesEIF3H
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)nsv5716178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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