A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503078



Internal ID279922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112561133..112561247hg38UCSC Ensembl
chr13:113215447..113215561hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693726
Samples
Known GenesTUBGCP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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