A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215297



Internal ID22361679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:479766..496888hg38UCSC Ensembl
Outerchr7:519403..536525hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382344
hg192344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277832, nssv14277836, nssv14277833, nssv14277837, nssv14277835, nssv14277834
SamplesNA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215297
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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