A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217990



Internal ID22363484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50573597..50605995hg38UCSC Ensembl
Outerchr19:51076854..51109252hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3832399
hg1932399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263491, nssv14263490
SamplesNA19238, NA19239
Known GenesSNAR-F
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217990
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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