nsv3916125
- 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:9,217,375
- Description:GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)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: 24506 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 24506 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 6150 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916125 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 103,767,420 | 112,984,794 |
| nsv3916125 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 106,529,701 | 115,747,074 |
| nsv3916125 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 105,569,522 | 114,786,895 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148028 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134976.6, VCV000145648.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148028 | Submitted genomic | NC_000009.12:g.(?_ 103767420)_(112984 794_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 103,767,420 | 112,984,794 |
| nssv15148028 | Submitted genomic | NC_000009.11:g.(?_ 106529701)_(115747 074_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,529,701 | 115,747,074 |
| nssv15148028 | Submitted genomic | NC_000009.10:g.(?_ 105569522)_(114786 895_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 105,569,522 | 114,786,895 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148028 | GRCh37: NC_000009.11:g.(?_106529701)_(115747074_?)del, GRCh38: NC_000009.12:g.(?_103767420)_(112984794_?)del, NCBI36: NC_000009.10:g.(?_105569522)_(114786895_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134976.6, VCV000145648.2 | 1 |