A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5834912



Internal ID22609847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132554116..132561415hg38UCSC Ensembl
chr3:132272960..132280259hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg387300
hg197300
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17485060
Samples
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5834912
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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