A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202440



Internal ID22351607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:83747062..83802284hg38UCSC Ensembl
Outerchr2:83974186..84029408hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3855223
hg1955223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264687
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202440
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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