A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350975



Internal ID22576644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226138339..226138339hg38UCSC Ensembl
chr1:226326040..226326040hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958716
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350975
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