A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494841



Internal ID271972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45697926..45697981hg38UCSC Ensembl
chr12:46091709..46091764hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058490
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494841
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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