A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686276



Internal ID21712597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146280509..146280509hg38UCSC Ensembl
chr4:147201661..147201661hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209856, nssv17174740
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)nsv5686276
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer