nsv3873245
- 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:53,772
- Description:GRCh37/hg19 1q43(chr1:239774393-239828164)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: 216 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3873245 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 239,611,093 | 239,664,864 |
| nsv3873245 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 239,774,393 | 239,828,164 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15157659 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000736916.2, VCV000600280.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15157659 | Remapped | Perfect | NC_000001.11:g.(?_ 239611093)_(239664 864_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 239,611,093 | 239,664,864 |
| nssv15157659 | Submitted genomic | NC_000001.10:g.(?_ 239774393)_(239828 164_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 239,774,393 | 239,828,164 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15157659 | GRCh37: NC_000001.10:g.(?_239774393)_(239828164_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000736916.2, VCV000600280.2 | 1 |