A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223094



Internal ID22366965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158632020..158673051hg38UCSC Ensembl
Outerchr7:158424712..158465743hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279533, nssv14279534, nssv14279535, nssv14279536
SamplesNA19238, HG00731, HG00732, HG00513
Known GenesNCAPG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223094
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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