A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475609



Internal ID21133162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109063696..109158615hg38UCSC Ensembl
chr12:109501501..109596420hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3894920
hg1994920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189341
Samples
Known GenesACACB, ALKBH2, UNG, USP30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475609
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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