A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748049



Internal ID20524073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1238396..1238633hg38UCSC Ensembl
chr5:1238511..1238748hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16296541
Samples
Known GenesSLC6A18
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748049
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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