A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219185



Internal ID22364287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131994919..132090198hg38UCSC Ensembl
Outerchr7:131679678..131774957hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381433
hg191433
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278037, nssv14278038, nssv14278035, nssv14278034, nssv14278033, nssv14278039, nssv14278036, nssv14278040
SamplesHG00512, NA19238, NA19239, 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)nsv3219185
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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