A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267070



Internal ID22203756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39970216..39976188hg38UCSC Ensembl
Outerchr21:41342143..41348115hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg383243
hg193243
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250025
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267070
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