A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209357



Internal ID20776397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49265331..49268889hg38UCSC Ensembl
chr3:49302764..49306322hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383559
hg193559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6368488
Supporting Variants
Samples
Known GenesC3orf62
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209357
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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