A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697647



Internal ID21723968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6440327..6440327hg38UCSC Ensembl
chr19:6440338..6440338hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202009
Samples
Known GenesSLC25A23
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)nsv5697647
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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