A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199310



Internal ID22348912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42471069..42471127hg38UCSC Ensembl
chr3:42512561..42512619hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5949n152
Supporting Variantsnssv14435270
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199310
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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