A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226424



Internal ID22369228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:113235341..113243997hg38UCSC Ensembl
Outerchr7:112875396..112884052hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278013, nssv14278012
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226424
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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