A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17584747



Internal ID21776790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70371325..70371568hg38UCSC Ensembl
chr11:70217431..70217674hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6034673
Supporting Variants
Samples
Known GenesPPFIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17584747
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