A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268145



Internal ID22135730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9971970..10039438hg38UCSC Ensembl
Outerchr21:10449998..10517466hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3867469
hg1967469
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215252
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268145
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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