A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249648



Internal ID22377336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132556381..132560308hg38UCSC Ensembl
Outerchr12:133132967..133136894hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256483
SamplesNA19239
Known GenesFBRSL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249648
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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