A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353887



Internal ID22579556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111073160..111074960hg38UCSC Ensembl
chr12:111510964..111512764hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930879
Supporting Variants
Samples
Known GenesCUX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353887
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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