A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182797



Internal ID20749837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109912679..109924337hg38UCSC Ensembl
chr12:110350484..110362142hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3811659
hg1911659
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479946
Supporting Variants
Samples
Known GenesTCHP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182797
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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