A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267935



Internal ID22232828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9971970..10058314hg38UCSC Ensembl
Outerchr21:10449998..10536342hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3886345
hg1986345
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227724
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267935
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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