nsv3874025
- 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:12,115,284
- Description:GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)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: 31724 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 31726 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3874025 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 111,071,908 | 123,187,191 |
| nsv3874025 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 110,407,606 | 122,522,885 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15140606 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000446959.3, VCV000395290.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140606 | Remapped | Perfect | NC_000005.10:g.(?_ 111071908)_(123187 191_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 111,071,908 | 123,187,191 |
| nssv15140606 | Submitted genomic | NC_000005.9:g.(?_1 10407606)_(1225228 85_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 110,407,606 | 122,522,885 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15140606 | GRCh37: NC_000005.9:g.(?_110407606)_(122522885_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000446959.3, VCV000395290.3 | 1 |