A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1937n152



Internal ID22817640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87725339..87759508hg38UCSC Ensembl
chr12:88119116..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 Variants
Supporting Variantsnsv3228405, nsv3220442
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1937n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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