A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4744414



Internal ID20520413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48496757..48496847hg38UCSC Ensembl
chr13:49070893..49070983hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259993
Samples
Known GenesRCBTB2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4744414
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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