Homo sapiens
Male
single organism
White
SD 7NQ9151J
not Hispanic or Latino
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Global developmental delay
A delay in the achievement of motor or mental milestones in the domains of development of a child, i...
BS R5TWY000
A biosample from Kids First produced as part of the SD 7NQ9151J project
Enchondroma
A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of...
51c57f45-11d8-4836-8535-2e60fd2e1f76.variant calling detail metrics
A file from Kids First produced from OBI:0002117 as part of the SD 7NQ9151J project
51c57f45-11d8-4836-8535-2e60fd2e1f76.peddy.het check.csv
5e6aa978-c075-4a22-95aa-b27ac389d8d2.multi.vqsr.filtered.denovo.vep 105.vcf.gz
51c57f45-11d8-4836-8535-2e60fd2e1f76.peddy.ped check.csv
51c57f45-11d8-4836-8535-2e60fd2e1f76.variant calling summary metrics
51c57f45-11d8-4836-8535-2e60fd2e1f76.CGP.filtered.deNovo.vep.vcf.gz
51c57f45-11d8-4836-8535-2e60fd2e1f76 stats.txt