A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708622



Internal ID21734943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97610169..97610169hg38UCSC Ensembl
chr10:99369926..99369926hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221091
Samples
Known GenesHOGA1
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)nsv5708622
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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