A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890710



Internal ID167984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163238512..163238563hg38UCSC Ensembl
chr1:163208302..163208353hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382203
hg192203
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555069
Supporting Variants
Samples
Known GenesRGS5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890710
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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