A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230081



Internal ID22371724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58960175..58964300hg38UCSC Ensembl
Outerchr1:59425847..59429972hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg383131
hg193131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262394, nssv14262395, nssv14262396, nssv14262397
SamplesNA19238, NA19239, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230081
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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