A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213266



Internal ID22360266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44310256..44328631hg38UCSC Ensembl
Outerchr6:44277993..44296368hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38693
hg19693
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278886, nssv14278890, nssv14278889, nssv14278887, nssv14278888
SamplesHG00512, NA19239, HG00731, HG00732, HG00513
Known GenesAARS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213266
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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