nsv3917350
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:25,028,985
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 86631 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 87091 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 25921 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917350 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 2,475,295 | 27,504,279 |
| nsv3917350 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,292,235 | 27,361,796 |
| nsv3917350 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 2,121,457 | 27,417,713 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161264 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050297.9, VCV000032400.2 | 1 |
| nssv15161582 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000148252.4, VCV000161037.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161264 | Submitted genomic | NC_000008.11:g.(?_ 2475295)_(27504279 _?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 2,475,295 | 27,504,279 |
| nssv15161582 | Submitted genomic | NC_000008.11:g.(?_ 2475295)_(27504279 _?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 2,475,295 | 27,504,279 |
| nssv15161264 | Submitted genomic | NC_000008.10:g.(?_ 2292235)_(27361796 _?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,292,235 | 27,361,796 |
| nssv15161582 | Submitted genomic | NC_000008.10:g.(?_ 2292235)_(27361796 _?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,292,235 | 27,361,796 |
| nssv15161264 | Submitted genomic | NC_000008.9:g.(?_2 121457)_(27417713_ ?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,121,457 | 27,417,713 |
| nssv15161582 | Submitted genomic | NC_000008.9:g.(?_2 121457)_(27417713_ ?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,121,457 | 27,417,713 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161264 | GRCh37: NC_000008.10:g.(?_2292235)_(27361796_?)del, GRCh38: NC_000008.11:g.(?_2475295)_(27504279_?)del, NCBI36: NC_000008.9:g.(?_2121457)_(27417713_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050297.9, VCV000032400.2 | 1 |
| nssv15161582 | GRCh37: NC_000008.10:g.(?_2292235)_(27361796_?)del, GRCh38: NC_000008.11:g.(?_2475295)_(27504279_?)del, NCBI36: NC_000008.9:g.(?_2121457)_(27417713_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000148252.4, VCV000161037.1 | 1 |