A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990783



Internal ID21900126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:10050341..11870472hg38UCSC Ensembl
chr3:10092025..11911946hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg381820132
hg191819922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv32n212
Supporting Variantsnssv17531828
Samples
Known GenesATG7, ATP2B2, BRK1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IRAK2, LINC00606, LINC00852, MIR885, SEC13, SLC6A1, SLC6A11, SLC6A1-AS1, TAMM41, TATDN2, VGLL4, VHL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990783
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