A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681873



Internal ID21708194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146337249..146337249hg38UCSC Ensembl
chr4:147258401..147258401hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174741, nssv17211308
Samples
Known GenesSLC10A7
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)nsv5681873
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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