A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433026



Internal ID211753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163180355..163180495hg38UCSC Ensembl
chr1:163150145..163150285hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890704
Samples
Known GenesRGS5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433026
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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