A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217869



Internal ID22363400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10183673..10190792hg38UCSC Ensembl
Outerchr1:10243731..10250850hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269759, nssv14269760
SamplesNA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217869
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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