A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463254



Internal ID21120807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106383073..106386395hg38UCSC Ensembl
chr12:106776851..106780173hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383323
hg193323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996111
Samples
Known GenesPOLR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463254
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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