A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721032



Internal ID21747353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4693313..4693313hg38UCSC Ensembl
chr12:4802479..4802479hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252459, nssv17237714
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)nsv5721032
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