A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18033193



Internal ID20600233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8846212..8847258hg38UCSC Ensembl
chr16:8940069..8941115hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6498541
Supporting Variants
Samples
Known GenesPMM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18033193
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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