A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704014



Internal ID21730335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114669483..114669483hg38UCSC Ensembl
chr8:115681712..115681712hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226694, nssv17185853
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)nsv5704014
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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