A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236884



Internal ID22373720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29618216..29625957hg38UCSC Ensembl
Outerchr19:30109123..30116864hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264156, nssv14264157
SamplesNA19238, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236884
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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