A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696038



Internal ID21722359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96254120..96254120hg38UCSC Ensembl
chr9:99016402..99016402hg19UCSC Ensembl
Cytoband9q22.32
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 Variantsnssv17230695
Samples
Known GenesHSD17B3
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)nsv5696038
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer