A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271384



Internal ID22120627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38571486..38589929hg38UCSC Ensembl
Outerchr3:38612977..38631420hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg386210
hg196210
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225010
Supporting Variants
SamplesHG00512
Known GenesSCN5A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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