nsv3918361
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,547,231
- Description:GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9924 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 9874 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2606 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918361 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 127,874,581 | 130,421,811 |
| nsv3918361 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,636,860 | 133,297,198 |
| nsv3918361 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 129,676,681 | 132,287,019 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132930 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052934.7, VCV000059134.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132930 | Submitted genomic | NC_000009.12:g.(?_ 127874581)_(130421 811_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 127,874,581 | 130,421,811 |
| nssv15132930 | Submitted genomic | NC_000009.11:g.(?_ 130636860)_(133297 198_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,636,860 | 133,297,198 |
| nssv15132930 | Submitted genomic | NC_000009.10:g.(?_ 129676681)_(132287 019_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 129,676,681 | 132,287,019 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132930 | GRCh37: NC_000009.11:g.(?_130636860)_(133297198_?)del, GRCh38: NC_000009.12:g.(?_127874581)_(130421811_?)del, NCBI36: NC_000009.10:g.(?_129676681)_(132287019_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052934.7, VCV000059134.1 | 1 |