A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244818



Internal ID21692327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94913476..94913476hg38UCSC Ensembl
chr1:95379032..95379032hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726098
Supporting Variants
Samples
Known GenesCNN3
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)nssv17244818
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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