A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609939



Internal ID21558244
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 StatusM
Merged Variants
Supporting Variantsnssv17131547
SamplesHG00731
Known GenesSCN5A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609939
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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