A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214191



Internal ID22360914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:21343766..21352820hg38UCSC Ensembl
Outerchr7:21383384..21392438hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg382350
hg192350
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278467, nssv14278466
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214191
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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