A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18030007



Internal ID20597047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50339392..50339760hg38UCSC Ensembl
chr16:50373303..50373671hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505953
Supporting Variants
Samples
Known GenesBRD7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18030007
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00118


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