A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218353



Internal ID22363723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1865420..1893158hg38UCSC Ensembl
Outerchr7:1905056..1932794hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382630
hg192630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277886, nssv14277888, nssv14277885, nssv14277887, nssv14277882, nssv14277883, nssv14277884
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesMAD1L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218353
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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