A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210526



Internal ID22358397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120806374..120840432hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg388603
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269416, nssv14269414, nssv14269415
SamplesNA19239, HG00731, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210526
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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