nsv3900139
- 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:5,384,954
- Description:GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)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: 15328 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 15330 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900139 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 30,244,541 | 35,629,494 |
| nsv3900139 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 30,735,448 | 36,120,396 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139374 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000448231.3, VCV000394109.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15139374 | Remapped | Perfect | NC_000019.10:g.(?_ 30244541)_(3562949 4_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 30,244,541 | 35,629,494 |
| nssv15139374 | Submitted genomic | NC_000019.9:g.(?_3 0735448)_(36120396 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 30,735,448 | 36,120,396 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139374 | GRCh37: NC_000019.9:g.(?_30735448)_(36120396_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000448231.3, VCV000394109.3 | 3 |