nsv3923000
- 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:152,146
- Description:
GRCh38/hg38 8p23.3(chr8:1739267-1891412)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: 1746 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1749 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 399 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923000 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 1,739,267 | 1,891,412 |
| nsv3923000 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 1,687,433 | 1,839,578 |
| nsv3923000 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 1,674,840 | 1,826,985 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146593 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054224.6, VCV000060346.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146593 | Submitted genomic | NC_000008.11:g.(?_ 1739267)_(1891412_ ?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 1,739,267 | 1,891,412 |
| nssv15146593 | Submitted genomic | NC_000008.10:g.(?_ 1687433)_(1839578_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,687,433 | 1,839,578 |
| nssv15146593 | Submitted genomic | NC_000008.9:g.(?_1 674840)_(1826985_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 1,674,840 | 1,826,985 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146593 | GRCh37: NC_000008.10:g.(?_1687433)_(1839578_?)del, GRCh38: NC_000008.11:g.(?_1739267)_(1891412_?)del, NCBI36: NC_000008.9:g.(?_1674840)_(1826985_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000054224.6, VCV000060346.1 | 1 |