A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184509



Internal ID20751549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30780611..30867997hg38UCSC Ensembl
chr16:30791932..30879318hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3887387
hg1987387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505690
Supporting Variants
Samples
Known GenesBCL7C, ZNF629
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184509
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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