A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212681



Internal ID22359853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:239364085..239423835hg38UCSC Ensembl
Outerchr1:239527385..239587135hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381272
hg191272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265671, nssv14265673, nssv14265672, nssv14265669, nssv14265674, nssv14265676, nssv14265670, nssv14265668, nssv14265675
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)nsv3212681
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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