A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200613



Internal ID20767653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241636401..241645100hg38UCSC Ensembl
chr1:241799703..241808402hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg388700
hg198700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316221
Supporting Variants
Samples
Known GenesOPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200613
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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