A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898683



Internal ID22673802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132554281..132561398hg38UCSC Ensembl
chr3:132273125..132280242hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg387118
hg197118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392074
Samples
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898683
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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