nsv6314715
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:29,552,781
- Description:NC_000014.8:g.(21162263_36986276)_(36987308_50
713602)del AND Brain-lung-thyroid syndrome - Publication(s):Patel et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 87630 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 87805 SVs from 138 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314715 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,694,104 | 20,694,104 | 50,246,884 | 50,246,884 |
| nsv6314715 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 21,162,263 | 36,986,276 | 36,987,308 | 50,713,602 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976070 | deletion | Multiple | Multiple | Brain-lung-thyroid syndrome; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP; Choreoathetosis, hypothyroidism, and neonatal respiratory distress; NKX2-1-Related Disorders; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV002221171.1, VCV001676204.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17976070 | Remapped | Good | NC_000014.9:g.(206 94104_20694104)_(5 0246884_50246884)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,694,104 | 20,694,104 | 50,246,884 | 50,246,884 |
| nssv17976070 | Submitted genomic | NC_000014.8:g.(211 62263_36986276)_(3 6987308_50713602)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,162,263 | 36,986,276 | 36,987,308 | 50,713,602 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976070 | GRCh37: NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del | deletion | de novo | Brain-lung-thyroid syndrome; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP; Choreoathetosis, hypothyroidism, and neonatal respiratory distress; NKX2-1-Related Disorders; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV002221171.1, VCV001676204.1 |