A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268672



Internal ID22258780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45891370..45930397hg38UCSC Ensembl
Outerchr21:47311284..47350311hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383463
hg193463
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249063
Supporting Variants
SamplesNA19238
Known GenesPCBP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268672
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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