nsv4457328
- 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:228,203
- Description:GRCh37/hg19 7q11.22(chr7:69220855-69449057)x1 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: 545 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 545 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457328 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 69,755,869 | 69,984,071 |
| nsv4457328 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,220,855 | 69,449,057 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775709 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847810.2, VCV000687102.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775709 | Remapped | Perfect | NC_000007.14:g.(?_ 69755869)_(6998407 1_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 69,755,869 | 69,984,071 |
| nssv15775709 | Submitted genomic | NC_000007.13:g.(?_ 69220855)_(6944905 7_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,220,855 | 69,449,057 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775709 | GRCh37: NC_000007.13:g.(?_69220855)_(69449057_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000847810.2, VCV000687102.2 | 1 |