A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17433893



Internal ID22491763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:36890927..36891109hg38UCSC Ensembl
chr8:36748445..36748627hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5917224
Supporting Variants
Samples
Known GenesKCNU1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17433893
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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