A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209148



Internal ID20776188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28062923..28076611hg38UCSC Ensembl
chr2:28285790..28299478hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3813689
hg1913689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341915
Supporting Variants
Samples
Known GenesBRE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209148
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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