AnnotSV

Compiles functionally and clinically relevant information to interpret SV pathogenicity quickly.

Key Info

• URL: https://lbgi.fr/AnnotSV/
• Category: CNV Analysis
• API: Yes
• Free: Free
• ACMG Relevance: ACMG 2019 (CNV)

Why It Matters

Integrates databases like DGV to compute allelic frequencies for structural variations, rapidly filtering out common benign macro-events.

How to Use

See https://lbgi.fr/AnnotSV/ for documentation and access.

STRC Research Usage

Not directly applicable to E1659A via API. Requires local installation or web interface. See documentation for manual usage.

Next Steps

• Test with STRC E1659A variant
• Verify API access
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]