A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495266



Internal ID21152819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129084101..129086000hg38UCSC Ensembl
chr12:129568646..129570545hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193801
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495266
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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