nsv6636602
- 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:1,499,125
- Description:GRCh37/hg19 7q11.23(chr7:72643632-74143060)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: 4773 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 4730 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636602 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 73,229,598 | 74,728,722 |
| nsv6636602 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 72,643,632 | 74,143,060 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330757 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472618.1, VCV001807812.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330757 | Remapped | Good | NC_000007.14:g.(?_ 73229598)_(7472872 2_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 73,229,598 | 74,728,722 |
| nssv18330757 | Submitted genomic | NC_000007.13:g.(?_ 72643632)_(7414306 0_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 72,643,632 | 74,143,060 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330757 | GRCh37: NC_000007.13:g.(?_72643632)_(74143060_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472618.1, VCV001807812.1 | 1 |