A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432014



Internal ID210773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89913771..89913822hg38UCSC Ensembl
chr14:90380115..90380166hg19UCSC Ensembl
Cytoband14q32.11
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 Variantsnssv17697159
Samples
Known GenesEFCAB11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432014
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