nsv4683612
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,561,870
- Description:
See descriptions for individual calls in download files - Publication(s):No authors et al. 2021, No authors et al. 2021, Savage et al. 2009
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5373 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 5374 SVs from 100 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683612 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 6,686,187 | 8,248,056 |
| nsv4683612 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 6,589,506 | 8,151,374 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213521 | duplication | Multiple | Multiple | Dyskeratosis Congenita; Dyskeratosis congenita; Dyskeratosis congenita; Server error < EMBL-EBI | Uncertain significance | ClinVar | RCV001031775.1, VCV000831200.3 |
| nssv16867130 | duplication | Multiple | Multiple | Common variable immunodeficiency; Common variable immunodeficiency; IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1; Immunodeficiency, common variable | Uncertain significance | ClinVar | RCV001338841.2, VCV000831200.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213521 | Remapped | Perfect | NC_000017.11:g.(?_ 6686187)_(8248056_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,686,187 | 8,248,056 |
| nssv16867130 | Remapped | Perfect | NC_000017.11:g.(?_ 6686187)_(8248056_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,686,187 | 8,248,056 |
| nssv16213521 | Submitted genomic | NC_000017.10:g.(?_ 6589506)_(8151374_ ?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,589,506 | 8,151,374 | ||
| nssv16867130 | Submitted genomic | NC_000017.10:g.(?_ 6589506)_(8151374_ ?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,589,506 | 8,151,374 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213521 | GRCh37: NC_000017.10:g.(?_6589506)_(8151374_?)dup | duplication | germline | Dyskeratosis Congenita; Dyskeratosis congenita; Dyskeratosis congenita; Server error < EMBL-EBI | Uncertain significance | ClinVar | RCV001031775.1, VCV000831200.3 |
| nssv16867130 | GRCh37: NC_000017.10:g.(?_6589506)_(8151374_?)dup | duplication | germline | Common variable immunodeficiency; Common variable immunodeficiency; IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1; Immunodeficiency, common variable | Uncertain significance | ClinVar | RCV001338841.2, VCV000831200.3 |