A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753072



Internal ID20528932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1238396..1238396hg38UCSC Ensembl
chr5:1238511..1238511hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16276871
Samples
Known GenesSLC6A18
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753072
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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