A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196582



Internal ID22346565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27026256..27033400hg38UCSC Ensembl
Outerchr2:27249124..27256268hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg387145
hg197145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264855
SamplesNA19238
Known GenesMAPRE3, TMEM214
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196582
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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