A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267111



Internal ID22206255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42975425..42998166hg38UCSC Ensembl
Outerchr21:44395535..44418276hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382199
hg192199
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240740
Supporting Variants
SamplesHG00732
Known GenesPKNOX1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267111
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