nsv3913250
- 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:4,857,103
- Description:GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)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: 11496 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 11491 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 3295 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913250 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 121,925,147 | 126,782,249 |
| nsv3913250 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 121,643,994 | 126,501,092 |
| nsv3913250 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 123,126,684 | 127,983,782 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138465 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140814.4, VCV000152210.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138465 | Submitted genomic | NC_000003.12:g.(?_ 121925147)_(126782 249_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 121,925,147 | 126,782,249 |
| nssv15138465 | Submitted genomic | NC_000003.11:g.(?_ 121643994)_(126501 092_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 121,643,994 | 126,501,092 |
| nssv15138465 | Submitted genomic | NC_000003.10:g.(?_ 123126684)_(127983 782_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 123,126,684 | 127,983,782 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138465 | GRCh37: NC_000003.11:g.(?_121643994)_(126501092_?)del, GRCh38: NC_000003.12:g.(?_121925147)_(126782249_?)del, NCBI36: NC_000003.10:g.(?_123126684)_(127983782_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140814.4, VCV000152210.2 | 1 |