A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222299



Internal ID22366413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:112791195..112804558hg38UCSC Ensembl
Outerchr7:112431250..112444613hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278008, nssv14278005, nssv14278009, nssv14278010, nssv14278004, nssv14278007, nssv14278006
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222299
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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