A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218854



Internal ID22364069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56845740..56845807hg38UCSC Ensembl
chr8:57758299..57758366hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9185n152
Supporting Variantsnssv14438159, nssv14460078
SamplesHG00733, 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)nsv3218854
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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