A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717518



Internal ID21743839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:35056093..35056093hg38UCSC Ensembl
chr9:35056090..35056090hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241290
Samples
Known GenesVCP
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)nsv5717518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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