nsv3888699
- 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:4,012,686
- Description:GRCh37/hg19 1q21.1-21.2(chr1:146105170-148513854)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: 7897 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 4132 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3888699 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | 144,536,526 | 148,549,211 |
| nsv3888699 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 146,105,170 | 148,513,854 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141189 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510528.2, VCV000441774.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141189 | Remapped | Pass | NC_000001.11:g.(?_ 144536526)_(148549 211_?)del | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | 144,536,526 | 148,549,211 |
| nssv15141189 | Submitted genomic | NC_000001.10:g.(?_ 146105170)_(148513 854_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,105,170 | 148,513,854 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141189 | GRCh37: NC_000001.10:g.(?_146105170)_(148513854_?)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV000510528.2, VCV000441774.2 | 1 |