A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716643



Internal ID21742964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76855821..76855821hg38UCSC Ensembl
chr14:77322164..77322164hg19UCSC Ensembl
Cytoband14q24.3
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 Variantsnssv17249806, nssv17241417
Samples
Known GenesC14orf166B
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)nsv5716643
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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