nsv3887315
- 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:34,464
- Description:GRCh37/hg19 1q43(chr1:239832680-239867143)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: 152 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3887315 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 239,669,380 | 239,703,843 |
| nsv3887315 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 239,832,680 | 239,867,143 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15158320 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000736917.2, VCV000600281.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15158320 | Remapped | Perfect | NC_000001.11:g.(?_ 239669380)_(239703 843_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 239,669,380 | 239,703,843 |
| nssv15158320 | Submitted genomic | NC_000001.10:g.(?_ 239832680)_(239867 143_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 239,832,680 | 239,867,143 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15158320 | GRCh37: NC_000001.10:g.(?_239832680)_(239867143_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000736917.2, VCV000600281.2 | 1 |