nsv3915295
- 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:13,386,220
- Description:GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)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: 35850 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 35854 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 9627 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915295 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 121,689,052 | 135,075,271 |
| nsv3915295 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 121,559,760 | 134,945,165 |
| nsv3915295 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 121,064,970 | 134,450,377 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148132 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139622.6, VCV000150820.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148132 | Submitted genomic | NC_000011.10:g.(?_ 121689052)_(135075 271_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 121,689,052 | 135,075,271 |
| nssv15148132 | Submitted genomic | NC_000011.9:g.(?_1 21559760)_(1349451 65_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 121,559,760 | 134,945,165 |
| nssv15148132 | Submitted genomic | NC_000011.8:g.(?_1 21064970)_(1344503 77_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 121,064,970 | 134,450,377 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148132 | GRCh37: NC_000011.9:g.(?_121559760)_(134945165_?)del, GRCh38: NC_000011.10:g.(?_121689052)_(135075271_?)del, NCBI36: NC_000011.8:g.(?_121064970)_(134450377_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139622.6, VCV000150820.2 | 1 |