A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268135



Internal ID22258627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8591886..8598721hg38UCSC Ensembl
Outerchr21:9480719..9487554hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg386836
hg196836
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212723
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268135
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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