A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267565



Internal ID22135526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17291197..17301542hg38UCSC Ensembl
Outerchr21:18663516..18673861hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381048
hg191048
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244977
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267565
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