A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241588



Internal ID22375013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13530322..13538229hg38UCSC Ensembl
Outerchr19:13641136..13649043hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381336
hg191336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262617, nssv14262616, nssv14262618
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241588
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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