nsv4729459
- 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:153,489
- Description:GRCh37/hg19 7q11.23(chr7:76696035-76849523)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: 531 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 532 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729459 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 77,066,718 | 77,220,206 |
| nsv4729459 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,696,035 | 76,849,523 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254586 | copy number loss | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001260006.1, VCV000980830.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254586 | Remapped | Perfect | NC_000007.14:g.(?_ 77066718)_(7722020 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 77,066,718 | 77,220,206 |
| nssv16254586 | Submitted genomic | NC_000007.13:g.(?_ 76696035)_(7684952 3_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,696,035 | 76,849,523 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254586 | GRCh37: NC_000007.13:g.(?_76696035)_(76849523_?)del | copy number loss | germline | not provided | Likely benign | ClinVar | RCV001260006.1, VCV000980830.1 | 1 |