A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505790



Internal ID282556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20691698..20734665hg38UCSC Ensembl
chr12:20844632..20887599hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3842968
hg1942968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053910
Samples
Known GenesSLCO1C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505790
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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