A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725085



Internal ID21751406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12743382..12743382hg38UCSC Ensembl
chr12:12896316..12896316hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249347
Samples
Known GenesAPOLD1
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)nsv5725085
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