A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473655



Internal ID21131208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48708378..48712771hg38UCSC Ensembl
chr12:49102161..49106554hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg384394
hg194394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181965
Samples
Known GenesCCNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473655
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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