nsv3920521
- 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:15,986,491
- Description:GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 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: 60805 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 60482 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 15878 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920521 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 173,989,029 | 189,975,519 |
| nsv3920521 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 174,910,180 | 190,828,225 |
| nsv3920521 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 175,146,755 | 191,133,668 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122775 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141490.4, VCV000152991.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122775 | Submitted genomic | NC_000004.12:g.(?_ 173989029)_(189975 519_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 173,989,029 | 189,975,519 |
| nssv15122775 | Submitted genomic | NC_000004.11:g.(?_ 174910180)_(190828 225_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 174,910,180 | 190,828,225 |
| nssv15122775 | Submitted genomic | NC_000004.10:g.(?_ 175146755)_(191133 668_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 175,146,755 | 191,133,668 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122775 | GRCh37: NC_000004.11:g.(?_174910180)_(190828225_?)del, GRCh38: NC_000004.12:g.(?_173989029)_(189975519_?)del, NCBI36: NC_000004.10:g.(?_175146755)_(191133668_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000141490.4, VCV000152991.2 | 1 |