A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980513



Internal ID21889856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109387231..109430481hg38UCSC Ensembl
chr1:109929853..109973103hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3843251
hg1943251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536772
Samples
Known GenesPSMA5, SORT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5980513
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