A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17442970



Internal ID22500840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28318306..28318356hg38UCSC Ensembl
chr8:28175823..28175873hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5917237
Supporting Variants
Samples
Known GenesPNOC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17442970
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