A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722576



Internal ID21748897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139201663..139201663hg38UCSC Ensembl
chr5:138537352..138537352hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249405, nssv17236153
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722576
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