A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723645



Internal ID21749966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47664419..47664419hg38UCSC Ensembl
chr15:47956616..47956616hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238789, nssv17239411
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)nsv5723645
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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