A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316221



Internal ID20849299
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 StatusM
Merged Variants
Supporting Variantsnssv18200613
Samples
Known GenesOPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316221
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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