A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213034



Internal ID22360107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168634500..168669301hg38UCSC Ensembl
Outerchr6:169035180..169069841hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381773
hg191773
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279039, nssv14279038, nssv14279037
SamplesNA19240, HG00513, HG00514
Known GenesSMOC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213034
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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