A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501646



Internal ID278539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20854709..21259308hg38UCSC Ensembl
chr12:21007643..21412242hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38404600
hg19404600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv100n206
Supporting Variantsnssv17688493
Samples
Known GenesSLCO1B1, SLCO1B3, SLCO1B7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501646
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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