A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1665n152



Internal ID22817368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41205..43353hg38UCSC Ensembl
chr12:62387..64535hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3284840, nsv3284598, nsv3286308
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1665n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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