A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224824



Internal ID22368139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93857777..93882545hg38UCSC Ensembl
Outerchr1:94323333..94348101hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382278
hg192278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262780, nssv14262779, nssv14262778
SamplesNA19238, NA19239, NA19240
Known GenesDNTTIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224824
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