A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916223



Internal ID22691442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21337292..21338403hg38UCSC Ensembl
chr12:21490226..21491337hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363398
Samples
Known GenesSLCO1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916223
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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