A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4761926



Internal ID20537786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182451718..182451718hg38UCSC Ensembl
chr1:182420853..182420853hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279494
Samples
Known GenesRGSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4761926
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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