A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718595



Internal ID21744916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89832853..89832853hg38UCSC Ensembl
chr6:90542572..90542572hg19UCSC Ensembl
Cytoband6q15
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 Variantsnssv17236622
Samples
Known GenesCASP8AP2
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)nsv5718595
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