A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555069



Internal ID328236
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 StatusM
Merged Variants
Supporting Variantsnssv16890710
Samples
Known GenesRGS5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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