A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471812



Internal ID21129365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106786960..106788866hg38UCSC Ensembl
chr12:107180738..107182644hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381907
hg191907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996130
Samples
Known GenesRIC8B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471812
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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