A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215087



Internal ID22361534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107733044..107758178hg38UCSC Ensembl
Outerchr7:107373489..107398623hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg381971
hg191971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280050, nssv14280049
SamplesHG00733, HG00514
Known GenesCBLL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215087
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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