A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238964



Internal ID21686473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46982486..46982486hg38UCSC Ensembl
chr16:47016397..47016397hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38761
hg19761
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715063
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)nssv17238964
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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