A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18094181



Internal ID20661221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132603801..132991800hg38UCSC Ensembl
chr3:132322645..132710644hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38388000
hg19388000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6371540
Supporting Variants
Samples
Known GenesACAD11, NPHP3, NPHP3-ACAD11, NPHP3-AS1, UBA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18094181
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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