A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17553941



Internal ID21878296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50688518..50688518hg38UCSC Ensembl
chr5:49984352..49984352hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6062517
Supporting Variants
Samples
Known GenesPARP8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17553941
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