A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18029906



Internal ID20596946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4828151..4829699hg38UCSC Ensembl
chr16:4878152..4879700hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381549
hg191549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6504649
Supporting Variants
Samples
Known GenesGLYR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18029906
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00774


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