A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726740



Internal ID21753061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56190481..56190481hg38UCSC Ensembl
chr12:56584265..56584265hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252283
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)nsv5726740
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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