A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743049



Internal ID20519035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45345606..45345816hg38UCSC Ensembl
chr13:45919741..45919951hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295634
Samples
Known GenesTPT1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743049
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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