A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229450



Internal ID22371301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17950766..17969861hg38UCSC Ensembl
Outerchr21:19323083..19342178hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3819096
hg1919096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267944, nssv14267945
SamplesHG00731, HG00733
Known GenesCHODL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229450
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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