A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715931



Internal ID21742252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94746475..94746475hg38UCSC Ensembl
chr9:97508757..97508757hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249245
Samples
Known GenesC9orf3
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)nsv5715931
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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