A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931990



Internal ID22707282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21540074..21543404hg38UCSC Ensembl
chr14:22008208..22011550hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg383331
hg193343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382706
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931990
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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