nsv3889347
- 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:35,849,961
- Description:GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)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: 90279 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 90199 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3889347 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 185,675,531 | 221,525,491 |
| nsv3889347 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 185,644,663 | 221,698,833 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15169967 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000749265.2, VCV000612629.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15169967 | Remapped | Good | NC_000001.11:g.(?_ 185675531)_(221525 491_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 185,675,531 | 221,525,491 |
| nssv15169967 | Submitted genomic | NC_000001.10:g.(?_ 185644663)_(221698 833_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 185,644,663 | 221,698,833 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15169967 | GRCh37: NC_000001.10:g.(?_185644663)_(221698833_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000749265.2, VCV000612629.2 | 3 |