A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220442



Internal ID22365135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:87725339..87759508hg38UCSC Ensembl
Outerchr12:88119116..88153285hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3834170
hg1934170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1937n152
Supporting Variantsnssv14254685, nssv14254686, nssv14254684
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220442
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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