A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17224563



Internal ID21672072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96277676..96277676hg38UCSC Ensembl
chr9:99039958..99039958hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696642
Supporting Variants
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)nssv17224563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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