A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203094



Internal ID22352162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129358321..129365582hg38UCSC Ensembl
chr3:129077164..129084425hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387262
hg197262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6148n152
Supporting Variantsnssv14410243
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203094
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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