nsv3920388
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:40,317,315
- Description:GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 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: 102690 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 102719 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 26128 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920388 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 96,092,893 | 136,410,207 |
| nsv3920388 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 97,014,044 | 137,331,362 |
| nsv3920388 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 97,233,067 | 137,550,812 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121045 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051776.5, VCV000058033.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121045 | Submitted genomic | NC_000004.12:g.(?_ 96092893)_(1364102 07_?)dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 96,092,893 | 136,410,207 |
| nssv15121045 | Submitted genomic | NC_000004.11:g.(?_ 97014044)_(1373313 62_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 97,014,044 | 137,331,362 |
| nssv15121045 | Submitted genomic | NC_000004.10:g.(?_ 97233067)_(1375508 12_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 97,233,067 | 137,550,812 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121045 | GRCh37: NC_000004.11:g.(?_97014044)_(137331362_?)dup, GRCh38: NC_000004.12:g.(?_96092893)_(136410207_?)dup, NCBI36: NC_000004.10:g.(?_97233067)_(137550812_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051776.5, VCV000058033.1 | 3 |