A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975933



Internal ID22750868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58652863..58652863hg38UCSC Ensembl
chr14:59119581..59119581hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374929
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975933
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer