nsv3883692
- 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:9,880,934
- Description:GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4 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: 23251 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 23254 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3883692 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 59,670,306 | 69,551,239 |
| nsv3883692 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 58,966,132 | 68,847,066 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142474 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000510792.2, VCV000442344.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142474 | Remapped | Perfect | NC_000005.10:g.(?_ 59670306)_(6955123 9_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 59,670,306 | 69,551,239 |
| nssv15142474 | Submitted genomic | NC_000005.9:g.(?_5 8966132)_(68847066 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 58,966,132 | 68,847,066 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142474 | GRCh37: NC_000005.9:g.(?_58966132)_(68847066_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000510792.2, VCV000442344.2 | 4 |