A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469681



Internal ID21127234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104292641..104294235hg38UCSC Ensembl
chr12:104686419..104688013hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381595
hg191595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995698
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469681
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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