A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv417n152



Internal ID22816120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151599283..151599550hg38UCSC Ensembl
chr1:151571759..151572026hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3280853, nsv3281910, nsv3282143
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv417n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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