A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211729



Internal ID22359200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163323049..163345123hg38UCSC Ensembl
Outerchr6:163744081..163766155hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381339
hg191339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277726, nssv14277721, nssv14277729, nssv14277725, nssv14277728, nssv14277723, nssv14277724, nssv14277722, nssv14277727
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDKFZp451B082, PACRG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211729
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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