A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218884



Internal ID22364090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143165651..143171250hg38UCSC Ensembl
chr8:144247068..144252667hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9424n152
Supporting Variantsnssv14439761, nssv14439026, nssv14391202
SamplesNA19240, HG00733, 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)nsv3218884
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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