nsv3918400
- 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:13,457,101
- Description:GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)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: 35975 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 35979 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 9657 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 |
|---|---|---|---|---|---|---|---|
| nsv3918400 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 121,611,476 | 135,068,576 |
| nsv3918400 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 121,482,185 | 134,938,470 |
| nsv3918400 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 120,987,395 | 134,443,680 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139488 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142185.6, VCV000154016.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139488 | Submitted genomic | NC_000011.10:g.(?_ 121611476)_(135068 576_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 121,611,476 | 135,068,576 |
| nssv15139488 | Submitted genomic | NC_000011.9:g.(?_1 21482185)_(1349384 70_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 121,482,185 | 134,938,470 |
| nssv15139488 | Submitted genomic | NC_000011.8:g.(?_1 20987395)_(1344436 80_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 120,987,395 | 134,443,680 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139488 | GRCh37: NC_000011.9:g.(?_121482185)_(134938470_?)del, GRCh38: NC_000011.10:g.(?_121611476)_(135068576_?)del, NCBI36: NC_000011.8:g.(?_120987395)_(134443680_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142185.6, VCV000154016.2 | 1 |