A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv427n152



Internal ID22816130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154607729..154607811hg38UCSC Ensembl
chr1:154580205..154580287hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3199439, nsv3209354
SamplesNA19239, NA19240
Known GenesADAR
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)dgv427n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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