A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239411



Internal ID21686920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47664419..47664419hg38UCSC Ensembl
chr15:47956616..47956616hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381189
hg191189
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723645
Supporting Variants
Samples
Known GenesSEMA6D
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)nssv17239411
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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