A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv238n152



Internal ID22815941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60604039..60604350hg38UCSC Ensembl
chr1:61069711..61070022hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3175882, nsv3181488
SamplesNA19239, NA19240
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)dgv238n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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