A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212168



Internal ID20779208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184324672..184339670hg38UCSC Ensembl
chr3:184042460..184057458hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3814999
hg1914999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6372752
Supporting Variants
Samples
Known GenesEIF4G1, FAM131A, SNORD66
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212168
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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