A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702963



Internal ID21729284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112195216..112195216hg38UCSC Ensembl
chr8:113207445..113207445hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218142, nssv17185543
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)nsv5702963
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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