A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214853



Internal ID22361375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5103626..5116060hg38UCSC Ensembl
Outerchr12:5212792..5225226hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3812435
hg1912435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254846
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214853
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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