A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483478



Internal ID21141031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116801367..116802011hg38UCSC Ensembl
chr12:117239172..117239816hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185206
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483478
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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