A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6193n152



Internal ID22821896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148849005..148849324hg38UCSC Ensembl
chr3:148566792..148567111hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3523244, nsv3184155
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCPB1
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)dgv6193n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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