A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224479



Internal ID22367901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50267318..50291224hg38UCSC Ensembl
Outerchr20:48883855..48907761hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3823907
hg1923907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266343
SamplesHG00513
Known GenesLOC100506115
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224479
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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