A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223827



Internal ID22367481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234164157..234227631hg38UCSC Ensembl
Outerchr1:234299903..234363377hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382678
hg192678
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266809, nssv14266814, nssv14266815, nssv14266811, nssv14266812, nssv14266813, nssv14266817, nssv14266816, nssv14266810
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC35F3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223827
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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