A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225412



Internal ID22368548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43965201..43975667hg38UCSC Ensembl
Outerchr6:43932938..43943404hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381034
hg191034
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276536
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225412
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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