A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18030454



Internal ID20597494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51345699..51351989hg38UCSC Ensembl
chr16:51379610..51385900hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg386291
hg196291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497044
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18030454
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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