A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513349



Internal ID289877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22229957..22230010hg38UCSC Ensembl
chr13:22804096..22804149hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686077
Samples
Known GenesLINC00540
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513349
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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