A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504082



Internal ID280892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90781639..90781754hg38UCSC Ensembl
chr13:91433893..91434008hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694364
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504082
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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