A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697336



Internal ID121002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99208959..99209024hg38UCSC Ensembl
chr14:99675296..99675361hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502777
Supporting Variants
Samples
Known GenesBCL11B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697336
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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