A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684847



Internal ID108513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119439096..119439153hg38UCSC Ensembl
chr12:119876901..119876958hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494469
Supporting Variants
Samples
Known GenesCCDC60
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684847
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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