A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519742



Internal ID296088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10781835..10781894hg38UCSC Ensembl
chr16:10875692..10875751hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704533
Samples
Known GenesTVP23A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519742
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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