A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614593



Internal ID21562898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183663407..183663407hg38UCSC Ensembl
chr1:183632542..183632542hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061982
SamplesNA19238
Known GenesRGL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614593
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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