nsv3884558
- 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:17,539,919
- Description:GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 44838 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 44749 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884558 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 93,589,167 | 111,129,085 |
| nsv3884558 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 94,054,724 | 111,671,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15170620 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000749068.2, VCV000612432.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15170620 | Remapped | Good | NC_000001.11:g.(?_ 93589167)_(1111290 85_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 93,589,167 | 111,129,085 |
| nssv15170620 | Submitted genomic | NC_000001.10:g.(?_ 94054724)_(1116717 07_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 94,054,724 | 111,671,707 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15170620 | GRCh37: NC_000001.10:g.(?_94054724)_(111671707_?)dup | copy number gain | de novo | not provided | Pathogenic | ClinVar | RCV000749068.2, VCV000612432.2 | 3 |