A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218448



Internal ID22363782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93814509..93877728hg38UCSC Ensembl
Outerchr1:94280065..94343284hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270889, nssv14270888, nssv14270886, nssv14270887
SamplesHG00512, HG00731, HG00732, HG00513
Known GenesBCAR3, DNTTIP2, MIR760
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218448
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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