nsv3916850
- 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:4,188,552
- Description:GRCh38/hg38 5q31.1(chr5:131626503-135815054)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: 9680 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 9680 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2469 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916850 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 131,626,503 | 135,815,054 |
| nsv3916850 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 130,962,196 | 135,150,743 |
| nsv3916850 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 130,990,095 | 135,178,642 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132883 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135442.4, VCV000146119.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132883 | Submitted genomic | NC_000005.10:g.(?_ 131626503)_(135815 054_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 131,626,503 | 135,815,054 |
| nssv15132883 | Submitted genomic | NC_000005.9:g.(?_1 30962196)_(1351507 43_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 130,962,196 | 135,150,743 |
| nssv15132883 | Submitted genomic | NC_000005.8:g.(?_1 30990095)_(1351786 42_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 130,990,095 | 135,178,642 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132883 | GRCh37: NC_000005.9:g.(?_130962196)_(135150743_?)del, GRCh38: NC_000005.10:g.(?_131626503)_(135815054_?)del, NCBI36: NC_000005.8:g.(?_130990095)_(135178642_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135442.4, VCV000146119.2 | 1 |