A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223471



Internal ID22367232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:105954394..105974125hg38UCSC Ensembl
Outerchr1:106497016..106516747hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263365, nssv14263366, nssv14263368, nssv14263372, nssv14263373, nssv14263367, nssv14263370, nssv14263369, nssv14263371
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223471
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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