A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225010



Internal ID22368272
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271385, nssv14271384, nssv14271389, nssv14271386, nssv14271387, nssv14271390, nssv14271388
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSCN5A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225010
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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