nsv3924487
- 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:624,627
- Description:GRCh38/hg38 4q31.21(chr4:143139072-143763698)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: 1595 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1595 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 448 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924487 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 143,139,072 | 143,763,698 |
| nsv3924487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,060,225 | 144,684,851 |
| nsv3924487 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 144,279,675 | 144,904,301 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122086 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140395.3, VCV000151691.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122086 | Submitted genomic | NC_000004.12:g.(?_ 143139072)_(143763 698_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 143,139,072 | 143,763,698 |
| nssv15122086 | Submitted genomic | NC_000004.11:g.(?_ 144060225)_(144684 851_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,060,225 | 144,684,851 |
| nssv15122086 | Submitted genomic | NC_000004.10:g.(?_ 144279675)_(144904 301_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 144,279,675 | 144,904,301 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122086 | GRCh37: NC_000004.11:g.(?_144060225)_(144684851_?)del, GRCh38: NC_000004.12:g.(?_143139072)_(143763698_?)del, NCBI36: NC_000004.10:g.(?_144279675)_(144904301_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000140395.3, VCV000151691.1 | 1 |