A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229782



Internal ID22371515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:84072835..84129259hg38UCSC Ensembl
Outerchr12:84466614..84523038hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3856425
hg1956425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1926n152
Supporting Variantsnssv14254838
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229782
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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