A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215705



Internal ID22361943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2496233..2510068hg38UCSC Ensembl
Outerchr6:2496467..2510302hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277217
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215705
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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