A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217459



Internal ID22363110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:4329244..4357332hg38UCSC Ensembl
Outerchr1:4389304..4417392hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381489
hg191489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271631, nssv14271630, nssv14271629, nssv14271632
SamplesHG00512, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217459
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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