nsv4675367
- 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:272,107
- Description:GRCh37/hg19 9p21.1-13.3(chr9:33126394-33398500)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: 854 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 860 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675367 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 33,126,396 | 33,398,502 |
| nsv4675367 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 33,126,394 | 33,398,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207012 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006236.1, VCV000815259.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207012 | Remapped | Perfect | NC_000009.12:g.(?_ 33126396)_(3339850 2_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 33,126,396 | 33,398,502 |
| nssv16207012 | Submitted genomic | NC_000009.11:g.(?_ 33126394)_(3339850 0_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 33,126,394 | 33,398,500 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207012 | GRCh37: NC_000009.11:g.(?_33126394)_(33398500_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006236.1, VCV000815259.1 | 3 |