A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv573n152



Internal ID22816276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224195599..224195876hg38UCSC Ensembl
chr1:224383301..224383578hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3526504, nsv3201210
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00514
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)dgv573n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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