A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218966



Internal ID22364136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155205203..155214405hg38UCSC Ensembl
Outerchr7:154996913..155006115hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278647, nssv14278645, nssv14278646, nssv14278648
SamplesNA19238, NA19239, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218966
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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