A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546512



Internal ID20919728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17753191..17771310hg38UCSC Ensembl
chr22:18235957..18254076hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3818120
hg1918120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204519
Samples
Known GenesBID, MIR3198-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546512
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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