A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238343



Internal ID21685852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60393038..60393038hg38UCSC Ensembl
chr17:58470399..58470399hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729571
Supporting Variants
Samples
Known Genes
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)nssv17238343
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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