A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212242



Internal ID20779282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:18945676..19948944hg38UCSC Ensembl
chr3:18987168..19990436hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381003269
hg191003269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6364259
Supporting Variants
Samples
Known GenesEFHB, KCNH8, MIR4791, RAB5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212242
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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