A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725599



Internal ID21751920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78431932..78431932hg38UCSC Ensembl
chr8:79344167..79344167hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38783
hg19783
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248593
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)nsv5725599
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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