nsv3876826
- 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:139,182
- Description:GRCh37/hg19 5q31.1(chr5:133871536-134010717)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 462 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 462 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876826 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 134,535,846 | 134,675,027 |
| nsv3876826 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 133,871,536 | 134,010,717 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15140657 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000447363.3, VCV000395216.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140657 | Remapped | Perfect | NC_000005.10:g.(?_ 134535846)_(134675 027_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 134,535,846 | 134,675,027 |
| nssv15140657 | Submitted genomic | NC_000005.9:g.(?_1 33871536)_(1340107 17_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 133,871,536 | 134,010,717 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15140657 | GRCh37: NC_000005.9:g.(?_133871536)_(134010717_?)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000447363.3, VCV000395216.3 | 1 |