A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358028



Internal ID22583697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64256314..64256399hg38UCSC Ensembl
chr12:64650094..64650179hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932751
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358028
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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