nsv3902556
- 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:973
- Description:GRCh37/hg19 9p22.1(chr9:19358608-19359580)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 202 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 208 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3902556 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 19,358,610 | 19,359,582 |
| nsv3902556 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 19,358,608 | 19,359,580 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15168601 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000748277.2, VCV000611641.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15168601 | Remapped | Perfect | NC_000009.12:g.(?_ 19358610)_(1935958 2_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 19,358,610 | 19,359,582 |
| nssv15168601 | Submitted genomic | NC_000009.11:g.(?_ 19358608)_(1935958 0_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 19,358,608 | 19,359,580 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15168601 | GRCh37: NC_000009.11:g.(?_19358608)_(19359580_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000748277.2, VCV000611641.2 | 1 |