A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17126358



Internal ID21478592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180023792..180023842hg38UCSC Ensembl
chr3:179741580..179741630hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5579106
Supporting Variants
SamplesHG03486
Known GenesPEX5L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17126358
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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