nsv4455452
- 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:190,142
- Description:GRCh37/hg19 7q11.22(chr7:69274353-69464494)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: 450 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 450 SVs from 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455452 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 69,809,367 | 69,999,508 |
| nsv4455452 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,274,353 | 69,464,494 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773264 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849276.2, VCV000688585.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773264 | Remapped | Perfect | NC_000007.14:g.(?_ 69809367)_(6999950 8_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 69,809,367 | 69,999,508 |
| nssv15773264 | Submitted genomic | NC_000007.13:g.(?_ 69274353)_(6946449 4_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,274,353 | 69,464,494 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773264 | GRCh37: NC_000007.13:g.(?_69274353)_(69464494_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000849276.2, VCV000688585.2 | 1 |