A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712562



Internal ID21738883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49421119..49421119hg38UCSC Ensembl
chr13:49995255..49995255hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193531
Samples
Known GenesCAB39L
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5712562
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