A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216504



Internal ID22362479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109554786..109558047hg38UCSC Ensembl
Outerchr12:109992591..109995852hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255213
SamplesNA19238
Known GenesMMAB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216504
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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