A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238876



Internal ID21686385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:84000751..84000751hg38UCSC Ensembl
chr9:86615666..86615666hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38798
hg19798
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729281
Supporting Variants
Samples
Known GenesRMI1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17238876
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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