nsv3924755
- 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:8,353,693
- Description:GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)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: 21600 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 21600 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 5490 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924755 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 49,471,778 | 57,825,470 |
| nsv3924755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 50,384,337 | 58,738,029 |
| nsv3924755 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 50,546,890 | 58,900,583 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148967 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142642.5, VCV000154575.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148967 | Submitted genomic | NC_000008.11:g.(?_ 49471778)_(5782547 0_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 49,471,778 | 57,825,470 |
| nssv15148967 | Submitted genomic | NC_000008.10:g.(?_ 50384337)_(5873802 9_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 50,384,337 | 58,738,029 |
| nssv15148967 | Submitted genomic | NC_000008.9:g.(?_5 0546890)_(58900583 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 50,546,890 | 58,900,583 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148967 | GRCh37: NC_000008.10:g.(?_50384337)_(58738029_?)del, GRCh38: NC_000008.11:g.(?_49471778)_(57825470_?)del, NCBI36: NC_000008.9:g.(?_50546890)_(58900583_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142642.5, VCV000154575.2 | 1 |