A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214939



Internal ID22361435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:98025329..98030645hg38UCSC Ensembl
Outerchr7:97654641..97659957hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385317
hg195317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278828
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214939
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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