A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17529329



Internal ID21853686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211661656..211661656hg38UCSC Ensembl
chr1:211834998..211834998hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382361
hg192361
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6050788
Supporting Variants
Samples
Known GenesNEK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17529329
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