A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719326



Internal ID21745647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:866251..866251hg38UCSC Ensembl
chr10:912191..912191hg19UCSC Ensembl
Cytoband10p15.3
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 Variantsnssv17246304
Samples
Known GenesLARP4B
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)nsv5719326
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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