A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707678



Internal ID131344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30390486..30406486hg38UCSC Ensembl
chr16:30401807..30417807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145497
Supporting Variants
Samples
Known GenesZNF48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707678
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003976


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