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Genomes
Filters Pass
Allele Count12627
Allele Number134368
Allele Frequency0.09397
Grpmax Filtering AF
(95% confidence)
0.1687
African/African American
Number of homozygotes748
Mean depth of coverage31.0

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Genetic Ancestry Group Frequencies

5571323084590.1724
7075168480.1368
6254810320.1299
8276884450.1201
8186230.09397
175199690.08768
123214790530.08330
323563862910.05066
164337870.04855
1031010.03226
XX6388703363770.09082
XY6239640323710.09744
Total126271343687480.09397
Include:

Related Variants

Variant Effect Predictor

This variant falls on 2 transcripts 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. NHSL1

      1. ENST00000491526.6
        HGVSc
        c.96+59423G>A
      2. ENST00000468095.2
        HGVSc
        n.96+59423G>A

In Silico Predictors

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

  • CADD: 6.33

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 6-138633000-138634000

Read more about this constraint.

ExpectedObservedConstraint
170.9162Z = 0.68
o/e = 0.95
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-138613053-138653053

Age Distribution

Age distribution is based on the full gnomAD dataset, not the selected subset.

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0100200300400500600700800Variant 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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0K13.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants1.284e+7

Value: 1.284e+7 (genome samples)

Site quality approximation for all variants with 0.05 <= AF < 0.1.

Read Data


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