A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4767453



Internal ID20543313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48947584..48947584hg38UCSC Ensembl
chr13:49521720..49521720hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382541
hg192541
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286253
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4767453
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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