A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8668n152



Internal ID22824371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100449563..100450162hg38UCSC Ensembl
chr7:100047186..100047785hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3200714, nsv3191076
SamplesNA19240, HG00513
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)dgv8668n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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