nsv3881335
- 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:223,934
- Description:GRCh37/hg19 1q43(chr1:239350728-239574661)x3 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: 619 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 620 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3881335 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 239,187,428 | 239,411,361 |
| nsv3881335 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 239,350,728 | 239,574,661 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15156999 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000736914.2, VCV000600278.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15156999 | Remapped | Perfect | NC_000001.11:g.(?_ 239187428)_(239411 361_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 239,187,428 | 239,411,361 |
| nssv15156999 | Submitted genomic | NC_000001.10:g.(?_ 239350728)_(239574 661_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 239,350,728 | 239,574,661 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15156999 | GRCh37: NC_000001.10:g.(?_239350728)_(239574661_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000736914.2, VCV000600278.2 | 3 |