A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212934



Internal ID22360033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95827927..95845478hg38UCSC Ensembl
Outerchr12:96221705..96239256hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3817552
hg1917552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255824, nssv14255825
SamplesHG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212934
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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