A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509781



Internal ID286426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29833261..29833372hg38UCSC Ensembl
chr13:30407398..30407509hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686557
Samples
Known GenesUBL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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