ClinGen Dosage Sensitivity Curation Page

1q21.2 region (polymorphic region)(non-unique; also maps to chromosomes 16, 7, and others in GRCh38)

  • Curation Status: Complete


Location Information

Select assembly: (NC_000001.10) ()
  • Haploinsufficiency score: Haploinsufficiency unlikely
  • Strength of Evidence (disclaimer): Haploinsufficiency unlikely

Haploinsufficiency phenotype comments:

To date, there is no published evidence to suggest haploinsufficiency of this region. Please note: when remapping this region to GRCh38, the primary matching coordinates map to chromosomes 16 and 7. This is not a unique region, and is located within segmental duplications. The GRCh38 coordinates documented here represent the top hit returned when using the NCBI remapping tool to update coordinates from the original GRCh37 coordinates.

  • Triplosensitivity score: Triplosensitivity unlikely
  • Strength of Evidence (disclaimer): Triplosensitivity unlikely

Triplosensitivity phenotype comment:

To date, there is no published evidence to suggest triplosensitivity of this region.