A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523214



Internal ID21847573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35620735..35622003hg38UCSC Ensembl
chr1:36086336..36087604hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381269
hg191269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5984273
Supporting Variants
Samples
Known GenesPSMB2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523214
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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