A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979202



Internal ID22754137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16498849..16498849hg38UCSC Ensembl
chr20:16479494..16479494hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395641
Samples
Known GenesKIF16B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979202
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