A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229291



Internal ID22371185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133153168..133166323hg38UCSC Ensembl
Outerchr6:133474307..133487462hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385707
hg195707
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277087, nssv14277088
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229291
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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