A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212216



Internal ID20779256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186786474..186794823hg38UCSC Ensembl
chr3:186504263..186512612hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg388350
hg198350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6368922
Supporting Variants
Samples
Known GenesEIF4A2, MIR1248, RFC4, SNORA4, SNORA63, SNORA81
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212216
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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