A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212803



Internal ID22359945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:42010377..42021504hg38UCSC Ensembl
Outerchr2:42237517..42248644hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266096
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212803
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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