A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690534



Internal ID114200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104484217..104492794hg38UCSC Ensembl
chr12:104877995..104886572hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg388578
hg198578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497626
Supporting Variants
Samples
Known GenesCHST11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690534
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