ClinGen Dosage Sensitivity Curation Page

22q11.2 recurrent region (distal type III, D-H) (includes SMARCB1)

  • Curation Status: unknown
  • id: ISCA-46292
  • Last updated: 2020-01-05
  • Issue Type: ClinGen Region Curation
  • ClinGen Haploinsufficiency Score: Awaiting Review
  • ClinGen Triplosensitivity Score: Awaiting Review


Location Information

  • 22q11.21-q11.23
  • GRCh37/hg19 chr22: 21,917,117-24,994,433
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr22: 21,562,828-24,598,466
  • View: NCBI | Ensembl | UCSC
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Review not yet complete.

Review not yet complete.