nsv3900485
- 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:9,934,734
- Description:GRCh37/hg19 8p23.3-23.1(chr8:164984-10007227)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: 47624 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 47272 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900485 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 214,984 | 10,149,717 |
| nsv3900485 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 164,984 | 10,007,227 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15169209 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000747253.2, VCV000610617.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15169209 | Remapped | Good | NC_000008.11:g.(?_ 214984)_(10149717_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 214,984 | 10,149,717 |
| nssv15169209 | Submitted genomic | NC_000008.10:g.(?_ 164984)_(10007227_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 164,984 | 10,007,227 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15169209 | GRCh37: NC_000008.10:g.(?_164984)_(10007227_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000747253.2, VCV000610617.2 | 1 |