A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212723



Internal ID22359889
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268135
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212723
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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