A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485061



Internal ID22542972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132611538..132613869hg38UCSC Ensembl
chr3:132330382..132332713hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382332
hg192332
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834317
Supporting Variants
Samples
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485061
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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