A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410569



Internal ID22468439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107980664..107980664hg38UCSC Ensembl
chr5:107316365..107316365hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5954311
Supporting Variants
Samples
Known GenesFBXL17
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410569
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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