A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266060



Internal ID22279411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:31821021..31827347hg38UCSC Ensembl
Outerchr2:32046090..32052416hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383355
hg193355
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215840
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266060
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