A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226087



Internal ID22369013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170086996..170116104hg38UCSC Ensembl
Outerchr6:170402220..170431328hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381391
hg191391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277144, nssv14277143
SamplesHG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226087
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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