A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682307



Internal ID21708628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75576982..75576982hg38UCSC Ensembl
chr1:76042667..76042667hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226467
Samples
Known GenesSLC44A5
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)nsv5682307
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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