A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952833



Internal ID22728137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38584574..38584574hg38UCSC Ensembl
chr3:38626065..38626065hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415559
Samples
Known GenesSCN5A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952833
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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