A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218901



Internal ID22364100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223080074..223093512hg38UCSC Ensembl
Outerchr1:223253416..223266854hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384323
hg194323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265031, nssv14265028, nssv14265024, nssv14265026, nssv14265025, nssv14265023, nssv14265027, nssv14265029, nssv14265030
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)nsv3218901
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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