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DECIPHER

VERIFIED

## Connections

population-genetics cnv clinical

What It Does

  • Maps genomic variants (especially CNVs/SVs) to clinical phenotypes
  • Contains 40,000+ patient submissions from 300+ clinical centers
  • Links structural variants to developmental disorders
  • Haploinsufficiency and triplosensitivity scores

How to Use

### Web

1. Go to https://www.deciphergenomics.org

2. Search: "STRC" or chr15:43599563-43618800

3. View CNVs overlapping STRC region

### API


        curl "https://www.deciphergenomics.org/sequence/search?q=STRC"

Verified Status

VERIFIED — STRC gene found with CNV data. REST API available at https://www.deciphergenomics.org/api. Contains multiple CNVs affecting STRC region associated with hearing loss phenotypes.

STRC Research Usage

  • STRC region CNVs found in database — multiple patients with chr15q15.3 deletions and hearing loss
  • Relevant for Misha's paternal 98kb deletion — can find similar patients for natural history comparison

STRC Research Usage

  • STRC region CNVs found in database — multiple patients with chr15q15.3 deletions and hearing loss
  • Relevant for Misha's paternal 98kb deletion — can find similar patients for natural history comparison