A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3528n152



Internal ID22819231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31332571..31332923hg38UCSC Ensembl
chr17:29659589..29659941hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3236488, nsv3544195
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNF1
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)dgv3528n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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