A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379359



Internal ID22437229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46360250..46360250hg38UCSC Ensembl
chr1:46825922..46825922hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5955860
Supporting Variants
Samples
Known GenesNSUN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379359
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