A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17604280



Internal ID21796327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90695157..92546976hg38UCSC Ensembl
chr14:91161501..93013321hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg381851820
hg191851821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6024293
Supporting Variants
Samples
Known GenesATXN3, C14orf159, CATSPERB, CCDC88C, CPSF2, FBLN5, GPR68, NDUFB1, RIN3, RPS6KA5, SLC24A4, SMEK1, SNORA11B, TC2N, TRIP11, TTC7B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17604280
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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