A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483097



Internal ID21140650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120054018..120056563hg38UCSC Ensembl
chr12:120491822..120494367hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382546
hg192546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188307
Samples
Known GenesCCDC64
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483097
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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