A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730833



Internal ID21757154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104387848..104387848hg38UCSC Ensembl
chr12:104781626..104781626hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245487, nssv17246712
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)nsv5730833
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