A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211070



Internal ID22358750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55664621..55732886hg38UCSC Ensembl
Outerchr19:56175987..56244252hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3868266
hg1968266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4368n152
Supporting Variantsnssv14263290
SamplesNA19239
Known GenesEPN1, NLRP9, U2AF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211070
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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