A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479888



Internal ID21137441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121712912..121726644hg38UCSC Ensembl
chr12:122150818..122164550hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813733
hg1913733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186898
Samples
Known GenesTMEM120B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479888
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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