A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228072



Internal ID22370369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9871158..10039438hg38UCSC Ensembl
Outerchr21:10365976..10517466hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38168281
hg19151491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267901
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228072
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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