A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213495



Internal ID22360424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3998537..4017755hg38UCSC Ensembl
Outerchr1:4058597..4077815hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381408
hg191408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259917, nssv14259916, nssv14259918
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213495
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer