A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228138



Internal ID22370416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:39820037..39850211hg38UCSC Ensembl
Outerchr6:39787813..39817987hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381979
hg191979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276510, nssv14276511, nssv14276512, nssv14276516, nssv14276508, nssv14276509, nssv14276514, nssv14276515, nssv14276513
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDAAM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228138
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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