A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476203



Internal ID21133756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118010545..118021938hg38UCSC Ensembl
chr12:118448350..118459743hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3811394
hg1911394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178624
Samples
Known GenesRFC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476203
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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