A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226764



Internal ID22369460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3458139..3520529hg38UCSC Ensembl
Outerchr1:3374703..3437093hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg384851
hg194851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57n152
Supporting Variantsnssv14266434, nssv14266435
SamplesNA19239, HG00513
Known GenesARHGEF16, MEGF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226764
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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