A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv146n152



Internal ID22815849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24076496..24076813hg38UCSC Ensembl
chr1:24402986..24403303hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3182208, nsv3520016
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known GenesMYOM3
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)dgv146n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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