A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5599404



Internal ID21548038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51479173..51479228hg38UCSC Ensembl
chr16:51513084..51513139hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17090881
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5599404
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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