A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213930



Internal ID22360725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45959109..45982708hg38UCSC Ensembl
Outerchr21:47379023..47402622hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3823600
hg1923600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5607n152
Supporting Variantsnssv14267925, nssv14267924, nssv14267922, nssv14267923
SamplesHG00512, HG00732, HG00513, HG00514
Known GenesCOL6A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213930
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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