A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9178n152



Internal ID22824881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54059289..54059613hg38UCSC Ensembl
chr8:54971849..54972173hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3522465, nsv3171198
SamplesHG00512, NA19238, HG00731, HG00513, HG00514
Known GenesLYPLA1
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)dgv9178n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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