A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968042



Internal ID22742977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21205608..21205608hg38UCSC Ensembl
chr12:21358542..21358542hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354771
Samples
Known GenesSLCO1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968042
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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