A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378106



Internal ID22435976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32479616..32496966hg38UCSC Ensembl
chr13:33053753..33071103hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3817351
hg1917351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932755
Supporting Variants
Samples
Known GenesMINOS1P1, N4BP2L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378106
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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