A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1954n152



Internal ID22817657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94950280..94950591hg38UCSC Ensembl
chr12:95344056..95344367hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3519819, nsv3181024
SamplesHG00512, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1954n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer