nsv4768311
- 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:5,570,846
- Description:GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3 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: 13062 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 7559 SVs from 122 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4768311 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | - | 143,511,409 | 149,082,254 | - |
| nsv4768311 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 146,500,000 | - | - | 149,500,001 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16296964 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001264401.1, VCV000984435.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv16296964 | Remapped | Pass | NC_000001.11:g.(?_ 143511409)_(149082 254_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | - | 143,511,409 | 149,082,254 | - |
| nssv16296964 | Submitted genomic | NC_000001.10:g.(14 6500000_?)_(?_1495 00001)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,500,000 | - | - | 149,500,001 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16296964 | GRCh37: NC_000001.10:g.(146500000_?)_(?_149500001)dup | copy number gain | paternal | See cases | Uncertain significance | ClinVar | RCV001264401.1, VCV000984435.1 | 3 |