nsv3899194
- 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:41,786,721
- Description:GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)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: 106651 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 106661 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3899194 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 11,009,213 | 52,795,933 |
| nsv3899194 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 11,048,840 | 52,863,626 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161869 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512091.2, VCV000441541.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15161869 | Remapped | Good | NC_000007.14:g.(?_ 11009213)_(5279593 3_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 11,009,213 | 52,795,933 |
| nssv15161869 | Submitted genomic | NC_000007.13:g.(?_ 11048840)_(5286362 6_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 11,048,840 | 52,863,626 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161869 | GRCh37: NC_000007.13:g.(?_11048840)_(52863626_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000512091.2, VCV000441541.2 | 3 |