A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696642



Internal ID21722963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96277676..96277676hg38UCSC Ensembl
chr9:99039958..99039958hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187508, nssv17224563
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)nsv5696642
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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