A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206407



Internal ID22354954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207255924..207285110hg38UCSC Ensembl
Outerchr2:208120648..208149834hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3829187
hg1929187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263845, nssv14263846
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206407
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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