A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391434



Internal ID22291111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142975297..142975493hg38UCSC Ensembl
chr8:144056714..144056910hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3285452
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391434
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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