A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5881989



Internal ID22656966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16322316..16345587hg38UCSC Ensembl
chr1:16648811..16672082hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823272
hg1923272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358054
Samples
Known GenesFBXO42
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5881989
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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