A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347193



Internal ID21004746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192323161..192328029hg38UCSC Ensembl
chr2:193187887..193192755hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg384869
hg194869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205443
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347193
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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