A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710496



Internal ID21736817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:32662495..32662495hg38UCSC Ensembl
chr15:32954696..32954696hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198024, nssv17231112
Samples
Known GenesSCG5
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5710496
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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