A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719210



Internal ID21745531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151780409..151780409hg38UCSC Ensembl
chr5:151159970..151159970hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381260
hg191260
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233484
Samples
Known GenesG3BP1
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)nsv5719210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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