nsv3923830
- 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:2,566,956
- Description:GRCh38/hg38 5q31.1(chr5:132816203-135383158)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: 6102 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 6102 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1382 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923830 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 132,816,203 | 135,383,158 |
| nsv3923830 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 132,151,895 | 134,718,848 |
| nsv3923830 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 132,179,794 | 134,746,747 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133548 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052113.4, VCV000058360.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133548 | Submitted genomic | NC_000005.10:g.(?_ 132816203)_(135383 158_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 132,816,203 | 135,383,158 |
| nssv15133548 | Submitted genomic | NC_000005.9:g.(?_1 32151895)_(1347188 48_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 132,151,895 | 134,718,848 |
| nssv15133548 | Submitted genomic | NC_000005.8:g.(?_1 32179794)_(1347467 47_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 132,179,794 | 134,746,747 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133548 | GRCh37: NC_000005.9:g.(?_132151895)_(134718848_?)del, GRCh38: NC_000005.10:g.(?_132816203)_(135383158_?)del, NCBI36: NC_000005.8:g.(?_132179794)_(134746747_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052113.4, VCV000058360.1 | 1 |