nsv3897142
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:222,051
- Description:GRCh37/hg19 8p23.1(chr8:8407886-8629936)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 910 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 637 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 910 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3897142 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 8,550,376 | 8,772,426 |
| nsv3897142 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,579,739 | 4,801,747 |
| nsv3897142 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 8,407,886 | 8,629,936 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15168783 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000747353.2, VCV000610717.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15168783 | Remapped | Good | NW_018654717.1:g.( ?_4579739)_(480174 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,579,739 | 4,801,747 |
| nssv15168783 | Remapped | Perfect | NC_000008.11:g.(?_ 8550376)_(8772426_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 8,550,376 | 8,772,426 |
| nssv15168783 | Submitted genomic | NC_000008.10:g.(?_ 8407886)_(8629936_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 8,407,886 | 8,629,936 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15168783 | GRCh37: NC_000008.10:g.(?_8407886)_(8629936_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000747353.2, VCV000610717.2 | 1 |