A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231150



Internal ID22372152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39842899..39898829hg38UCSC Ensembl
Outerchr19:40333539..40388951hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816319
hg1916319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264227, nssv14264228
SamplesNA19238, HG00513
Known GenesFBL, FCGBP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231150
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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