A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405470



Internal ID22463340
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 StatusS
Merged Variantsnsv5889494
Supporting Variants
Samples
Known GenesCOX17, MAATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17405470
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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