A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217799



Internal ID22363347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12632196..12657062hg38UCSC Ensembl
Outerchr19:12743010..12767876hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3824867
hg1924867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261975, nssv14261974
SamplesNA19238, HG00513
Known GenesMAN2B1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217799
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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