A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215899



Internal ID22362072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62716647..62762056hg38UCSC Ensembl
Outerchr20:61347999..61393408hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3845410
hg1945410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5365n152
Supporting Variantsnssv14266353
SamplesHG00513
Known GenesNTSR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215899
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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