A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703283



Internal ID21729604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103086019..103086019hg38UCSC Ensembl
chr8:104098247..104098247hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17185490, nssv17216057
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5703283
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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