nsv3922547
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,904,206
- Description:GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9510 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 9378 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 2461 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922547 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 122,826,743 | 126,730,948 |
| nsv3922547 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 124,586,259 | 128,419,517 |
| nsv3922547 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 124,576,249 | 128,409,507 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133163 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052609.4, VCV000058820.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133163 | Submitted genomic | NC_000010.11:g.(?_ 122826743)_(126730 948_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 122,826,743 | 126,730,948 |
| nssv15133163 | Submitted genomic | NC_000010.10:g.(?_ 124586259)_(128419 517_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 124,586,259 | 128,419,517 |
| nssv15133163 | Submitted genomic | NC_000010.9:g.(?_1 24576249)_(1284095 07_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 124,576,249 | 128,409,507 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133163 | GRCh37: NC_000010.10:g.(?_124586259)_(128419517_?)del, GRCh38: NC_000010.11:g.(?_122826743)_(126730948_?)del, NCBI36: NC_000010.9:g.(?_124576249)_(128409507_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052609.4, VCV000058820.1 | 1 |