A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716994



Internal ID21743315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178527219..178527219hg38UCSC Ensembl
chr3:178245007..178245007hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251852
Samples
Known Genes
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)nsv5716994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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