A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17479048



Internal ID22536950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66986156..67009761hg38UCSC Ensembl
chr16:67020059..67043664hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3823606
hg1923606
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884944
Supporting Variants
Samples
Known GenesCES4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17479048
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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