nsv6137703
- 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:293,405
- Description:GRCh37/hg19 9p23(chr9:13862493-14155897)x1 AND 9p23 dn microdeletion
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 795 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 800 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137703 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 13,862,494 | 14,155,898 |
| nsv6137703 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 13,862,493 | 14,155,897 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683409 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001579309.2, VCV001209855.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683409 | Remapped | Perfect | NC_000009.12:g.(?_ 13862494)_(1415589 8_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 13,862,494 | 14,155,898 |
| nssv17683409 | Submitted genomic | NC_000009.11:g.(?_ 13862493)_(1415589 7_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 13,862,493 | 14,155,897 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17683409 | GRCh37: NC_000009.11:g.(?_13862493)_(14155897_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV001579309.2, VCV001209855.2 | 1 |