A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218274



Internal ID22363667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9624908..9628763hg38UCSC Ensembl
Outerchr1:9684966..9688821hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386253
hg196253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268059, nssv14268057, nssv14268058, nssv14268060
SamplesNA19239, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218274
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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