A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688642



Internal ID112308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64768627..64769652hg38UCSC Ensembl
chr12:65162407..65163432hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498916
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688642
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