A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214187



Internal ID22360911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170166434..170189823hg38UCSC Ensembl
Outerchr6:170481658..170505047hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381289
hg191289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8280n152
Supporting Variantsnssv14279444, nssv14279445, nssv14278309, nssv14278311, nssv14278310
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214187
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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