A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489621



Internal ID22547541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132721063..132722400hg38UCSC Ensembl
chr3:132439907..132441244hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381338
hg191338
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834605
Supporting Variants
Samples
Known GenesNPHP3, NPHP3-ACAD11, NPHP3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489621
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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