A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212126



Internal ID22359469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138228253..138235634hg38UCSC Ensembl
Outerchr7:137912999..137920380hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382956
hg192956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278072, nssv14278068, nssv14278065, nssv14278066, nssv14278071, nssv14278070, nssv14278069, nssv14278067
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212126
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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