A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889494



Internal ID22664512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119662960..119757421hg38UCSC Ensembl
chr3:119381807..119476268hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3894462
hg1994462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405470
Samples
Known GenesCOX17, MAATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889494
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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