nsv6636305
- 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:637,105
- Description:GRCh37/hg19 4q32.3(chr4:165149918-165787022)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: 2083 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2083 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636305 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 164,228,766 | 164,865,870 |
| nsv6636305 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 165,149,918 | 165,787,022 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330917 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472778.1, VCV001807972.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330917 | Remapped | Perfect | NC_000004.12:g.(?_ 164228766)_(164865 870_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 164,228,766 | 164,865,870 |
| nssv18330917 | Submitted genomic | NC_000004.11:g.(?_ 165149918)_(165787 022_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 165,149,918 | 165,787,022 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330917 | GRCh37: NC_000004.11:g.(?_165149918)_(165787022_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472778.1, VCV001807972.1 | 3 |