A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267930



Internal ID22135656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38215032..38230659hg38UCSC Ensembl
Outerchr21:39587126..39602581hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3815628
hg1915456
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213210
Supporting Variants
SamplesHG00513
Known GenesKCNJ15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267930
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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