A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237488



Internal ID22373889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48749928..48771241hg38UCSC Ensembl
Outerchr19:49253185..49274498hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264792
SamplesHG00732
Known GenesFGF21, FUT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237488
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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