A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222084



Internal ID22366273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26672124..26778386hg38UCSC Ensembl
Outerchr6:26672352..26778596hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3822183
hg1922183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278384, nssv14278383
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222084
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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