A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6553712



Internal ID20926824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197468732..197469374hg38UCSC Ensembl
chr2:198333456..198334098hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18257106
Samples
Known GenesCOQ10B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6553712
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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