A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212293



Internal ID20779333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58502340..60224074hg38UCSC Ensembl
chr3:58488067..60209802hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381721735
hg191721736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6370913
Supporting Variants
Samples
Known GenesACOX2, C3orf67, FAM107A, FAM3D, FHIT, KCTD6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212293
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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