nsv3919307
- 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:143,713
- Description:GRCh38/hg38 10q21.1(chr10:53954459-54098171)x0 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: 498 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 498 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919307 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 53,954,459 | 54,098,171 |
| nsv3919307 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 55,714,219 | 55,857,931 |
| nsv3919307 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 55,384,225 | 55,527,937 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136032 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138105.4, VCV000149046.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136032 | Submitted genomic | NC_000010.11:g.(?_ 53954459)_(5409817 1_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 53,954,459 | 54,098,171 |
| nssv15136032 | Submitted genomic | NC_000010.10:g.(?_ 55714219)_(5585793 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 55,714,219 | 55,857,931 |
| nssv15136032 | Submitted genomic | NC_000010.9:g.(?_5 5384225)_(55527937 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 55,384,225 | 55,527,937 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136032 | GRCh37: NC_000010.10:g.(?_55714219)_(55857931_?)del, GRCh38: NC_000010.11:g.(?_53954459)_(54098171_?)del, NCBI36: NC_000010.9:g.(?_55384225)_(55527937_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138105.4, VCV000149046.2 | 0 |