nsv4674457
- 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:3,058,547
- Description:GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)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: 8216 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 8216 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674457 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 81,671,986 | 84,730,532 |
| nsv4674457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 82,593,140 | 85,651,685 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207968 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005566.1, VCV000814576.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207968 | Remapped | Perfect | NC_000004.12:g.(?_ 81671986)_(8473053 2_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 81,671,986 | 84,730,532 |
| nssv16207968 | Submitted genomic | NC_000004.11:g.(?_ 82593140)_(8565168 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 82,593,140 | 85,651,685 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207968 | GRCh37: NC_000004.11:g.(?_82593140)_(85651685_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005566.1, VCV000814576.1 | 1 |