A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339413



Internal ID20996966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218803980..218820138hg38UCSC Ensembl
chr2:219668703..219684861hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3816159
hg1916159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205635
Samples
Known GenesCYP27A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339413
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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