A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214483



Internal ID22361128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168864851..168880507hg38UCSC Ensembl
Outerchr2:169721361..169737017hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3816939
hg1916939
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265070, nssv14265067, nssv14265066, nssv14265068, nssv14265071, nssv14265069
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesNOSTRIN, SPC25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214483
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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