A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199238



Internal ID22348854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128726825..128730230hg38UCSC Ensembl
chr8:129739071..129742476hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383406
hg193406
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9342n152
Supporting Variantsnssv14458898, nssv14402406
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199238
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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