1 copy: 6p telomere | 3 copies: 6p telomere

  • 40
    Haplo
    Score
  • 40
    Triplo
    Score

Region Facts

Region Name
1 copy: 6p telomere | 3 copies: 6p telomere
Cytoband
6p25
Genomic Coordinates
GRCh37/hg19 chr6:259528-339802 NCBI Ensembl UCSC
GRCh38/hg38 chr6:259528-339802 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-37471
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
review of nstd45 regions
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
Triplosensitivity:
Dosage Sensitivity Unlikely (40)
Last Evaluated:
06/20/2014

Haploinsufficiency (HI) Score Details

HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
HI Evidence Comments:
This genomic region contains one coding gene, DUSP22. Reports of 6p subtelomere deletions associated with a clinical phenotype are usually much larger regions. Variants in the region chr6:230,527-378,628 are common in the public CNV databases of (presumably) 'normal' controls.

Triplosensitivity (TS) Score Details

TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS Evidence Comments:
This genomic region contains one coding gene, DUSP22. Variants in the region chr6:230,527-378,628 are common in the public CNV databases of (presumably) 'normal' controls.

Genomic View

Select assembly: (NC_000006.11) ()