A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242497



Internal ID22375299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39703797..39712353hg38UCSC Ensembl
Outerchr19:40194437..40202993hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264054
SamplesNA19239
Known GenesLGALS14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242497
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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