A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748435



Internal ID20524460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1504599..1504696hg38UCSC Ensembl
chr16:1554600..1554697hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283942
Samples
Known GenesTELO2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748435
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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