A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210973



Internal ID22358686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170136503..170189298hg38UCSC Ensembl
Outerchr6:170451727..170504522hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279043
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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