A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235260



Internal ID21682769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80355118..80355118hg38UCSC Ensembl
chr17:78328918..78328918hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720802
Supporting Variants
Samples
Known GenesLOC100294362, RNF213
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)nssv17235260
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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