A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708573



Internal ID21734894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:38686833..38686833hg38UCSC Ensembl
chr9:38686830..38686830hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221034, nssv17185770
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)nsv5708573
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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