A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222733



Internal ID22366713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:42292957..42321194hg38UCSC Ensembl
Outerchr12:42686759..42714996hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3828238
hg1928238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255581, nssv14255582, nssv14255580
SamplesNA19238, HG00513, HG00514
Known GenesZCRB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222733
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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