📈 Copy Number Variants
🔻 Deletion
Position: chr15:22,748,589-22,791,612
Size: 43 kb
Genes: NIPA1, NIPA2
Classification: Pathogenic
🔺 Duplication
Position: chr22:18,894,835-21,440,514
Size: 2.5 Mb
Genes: Multiple
Classification: VUS
🔻 Deletion
Position: chr7:117,120,016-117,308,718
Size: 189 kb
Genes: CFTR
Classification: Likely Path
📊
CNV Visualization
Visual representation of copy number variants across genome
🔄 Runs of Homozygosity
🔴 chr1:145,234,567-153,987,654
Size: 8.7 Mb | SNPs: 3,421 | Genes: 47 | Confidence: 99.8%
🔴 chr6:28,477,797-33,448,354 (HLA)
Size: 4.9 Mb | SNPs: 1,892 | Genes: 28 | Confidence: 98.5%
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Family Pedigree Viewer
Analyze family history and inheritance patterns
📋 Summary
3 Pathogenic and 8 Likely Pathogenic variants identified. Primary pathogenic variant in SCN1A (AI score 98%) is causative for Dravet syndrome.
🧬 Key Variants
SCN1A - Pathogenic - ClinVar: VCV000123456
c.4942C>T (p.Arg1648His) - OMIM #601769 - Dravet Syndrome - MAF 0.00001 - CADD 34.2
BRCA1 - Pathogenic - ClinVar: VCV000234567
c.68_69delAG - OMIM #113705 - Frameshift mutation - High impact
98%
AI analysis with ClinVar, OMIM, gnomAD integration confirms SCN1A as causative with 98% confidence