nsv6636539
- 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:623,807
- Description:GRCh37/hg19 7q22.2-22.3(chr7:104497480-105121286)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: 2046 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2046 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636539 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 104,857,033 | 105,480,839 |
| nsv6636539 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 104,497,480 | 105,121,286 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330191 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002473923.1, VCV001808606.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330191 | Remapped | Perfect | NC_000007.14:g.(?_ 104857033)_(105480 839_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 104,857,033 | 105,480,839 |
| nssv18330191 | Submitted genomic | NC_000007.13:g.(?_ 104497480)_(105121 286_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 104,497,480 | 105,121,286 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330191 | GRCh37: NC_000007.13:g.(?_104497480)_(105121286_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002473923.1, VCV001808606.1 | 1 |