nsv3920777
- 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:7,798,017
- Description:GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)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: 20270 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 20166 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 5491 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920777 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 68,454,847 | 76,252,863 |
| nsv3920777 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 71,130,848 | 78,867,779 |
| nsv3920777 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 70,259,583 | 78,057,599 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133033 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133632.5, VCV000144150.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133033 | Submitted genomic | NC_000009.12:g.(?_ 68454847)_(7625286 3_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 68,454,847 | 76,252,863 |
| nssv15133033 | Submitted genomic | NC_000009.11:g.(?_ 71130848)_(7886777 9_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 71,130,848 | 78,867,779 |
| nssv15133033 | Submitted genomic | NC_000009.10:g.(?_ 70259583)_(7805759 9_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 70,259,583 | 78,057,599 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133033 | GRCh37: NC_000009.11:g.(?_71130848)_(78867779_?)del, GRCh38: NC_000009.12:g.(?_68454847)_(76252863_?)del, NCBI36: NC_000009.10:g.(?_70259583)_(78057599_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133632.5, VCV000144150.2 | 1 |