nsv3890841
- 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:1,340,019
- Description:GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)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: 4258 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 4286 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890841 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 43,796,264 | 45,136,282 |
| nsv3890841 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 44,300,416 | 45,639,540 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151271 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000512107.2, VCV000442437.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151271 | Remapped | Good | NC_000019.10:g.(?_ 43796264)_(4513628 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,796,264 | 45,136,282 |
| nssv15151271 | Submitted genomic | NC_000019.9:g.(?_4 4300416)_(45639540 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 44,300,416 | 45,639,540 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151271 | GRCh37: NC_000019.9:g.(?_44300416)_(45639540_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000512107.2, VCV000442437.2 | 1 |