nsv4729331
- 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:519,314
- Description:GRCh37/hg19 4q21.3-22.1(chr4:87704091-88223403)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: 1794 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1794 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729331 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 86,782,938 | 87,302,251 |
| nsv4729331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 87,704,091 | 88,223,403 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254261 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259278.1, VCV000980102.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254261 | Remapped | Perfect | NC_000004.12:g.(?_ 86782938)_(8730225 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 86,782,938 | 87,302,251 |
| nssv16254261 | Submitted genomic | NC_000004.11:g.(?_ 87704091)_(8822340 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 87,704,091 | 88,223,403 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254261 | GRCh37: NC_000004.11:g.(?_87704091)_(88223403_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259278.1, VCV000980102.1 | 3 |