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Genomes
Filters Pass
Allele Count4
Allele Number152238
Allele Frequency0.00002627
Grpmax Filtering AF
(95% confidence)
0.00003248
African/African American
Number of homozygotes0
Mean depth of coverage31.9

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Genetic Ancestry Group Frequencies

44146800.00009646
06804000.000
01062800.000
01528000.000
091200.000
0520400.000
031400.000
0482800.000
0347000.000
0209400.000
XX07787200.000
XY47436600.00005379
Total415223800.00002627
Include:

Related Variants

Variant Effect Predictor

This variant falls on 1 transcript in 1 gene.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. intron

    1. DCDC2

      1. ENST00000378454.8
        MANE Select transcript for DCDC2
        HGVSc
        c.923-1601T>C

In Silico Predictors

Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.

  • CADD: 4.67
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 6-24206000-24207000

Read more about this constraint.

ExpectedObservedConstraint
183.8178Z = 0.43
o/e = 0.97
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-24186703-24226703

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01234Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants2.793e+3

Value: 2.793e+3 (genome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

Read Data


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