A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17131547



Internal ID21416778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38584574..38584574hg38UCSC Ensembl
chr3:38626065..38626065hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg386115
hg196115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5609939
Supporting Variants
SamplesHG00731
Known GenesSCN5A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17131547
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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