A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189231



Internal ID21328076
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954382
Supporting Variants
SamplesHG002
Known GenesSCN5A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189231
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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