nsv3909857
- 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:1,924,088
- Description:GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)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: 6672 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 6668 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3909857 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 35,984,675 | 37,908,762 |
| nsv3909857 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 36,475,577 | 38,399,402 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124451 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000240597.1, VCV000253766.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124451 | Remapped | Good | NC_000019.10:g.(?_ 35984675)_(3790876 2_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 35,984,675 | 37,908,762 |
| nssv15124451 | Submitted genomic | NC_000019.9:g.(?_3 6475577)_(38399402 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 36,475,577 | 38,399,402 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124451 | GRCh37: NC_000019.9:g.(?_36475577)_(38399402_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV000240597.1, VCV000253766.1 | 3 |