1q21.2 region (polymorphic region)(non-unique; also maps to chromosomes 16, 7, and others in GRCh38) |
- 40
Haplo
Score - 40
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37469
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
Review of nstd45 regions, nstd45
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
Dosage Sensitivity Unlikely
(40)
Last Evaluated:
10/22/2020
Haploinsufficiency (HI) Score Details
HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely
(Disclaimer)
HI Evidence 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 (TS) Score Details
TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS Evidence Comments:
To date, there is no published evidence to suggest triplosensitivity of this region.
Genomic View
Select assembly:
(NC_000001.10)
()