A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376053



Internal ID22601722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80727169..80729174hg38UCSC Ensembl
chr16:80761066..80763071hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg382006
hg192006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931330
Supporting Variants
Samples
Known GenesCDYL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376053
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