A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236493



Internal ID22373595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55653296..55675996hg38UCSC Ensembl
Outerchr19:56164662..56187362hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263940, nssv14263936, nssv14263937, nssv14263939, nssv14263935, nssv14263938
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00514
Known GenesEPN1, U2AF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236493
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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