A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684470



Internal ID108136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111074019..111074652hg38UCSC Ensembl
chr12:111511823..111512456hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38634
hg19634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510155
Supporting Variants
Samples
Known GenesCUX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684470
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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