A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223156



Internal ID22367010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128037457..128048003hg38UCSC Ensembl
Outerchr12:128522002..128532548hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3810547
hg1910547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254808
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223156
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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