A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220138



Internal ID22364930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34699654..34708748hg38UCSC Ensembl
Outerchr6:34667431..34676525hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg382969
hg192969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276482, nssv14276487, nssv14276484, nssv14276483, nssv14276486, nssv14276485
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220138
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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