A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1769n152



Internal ID22817472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25345799..25358433hg38UCSC Ensembl
chr12:25498733..25511367hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3812635
hg1912635
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3241899, nsv3245596
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1769n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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