nsv3903470
- 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:460,241
- Description:GRCh38/hg38 1q21.3(chr1:153759563-154219803)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: 1324 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1333 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3903470 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 153,759,563 | 154,219,803 |
| nsv3903470 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 153,732,039 | 154,192,279 |
| nsv3903470 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 151,998,663 | 152,458,903 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119939 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053883.4, VCV000060011.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119939 | Submitted genomic | NC_000001.11:g.(?_ 153759563)_(154219 803_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 153,759,563 | 154,219,803 |
| nssv15119939 | Submitted genomic | NC_000001.10:g.(?_ 153732039)_(154192 279_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 153,732,039 | 154,192,279 |
| nssv15119939 | Submitted genomic | NC_000001.9:g.(?_1 51998663)_(1524589 03_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 151,998,663 | 152,458,903 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119939 | GRCh37: NC_000001.10:g.(?_153732039)_(154192279_?)del, GRCh38: NC_000001.11:g.(?_153759563)_(154219803_?)del, NCBI36: NC_000001.9:g.(?_151998663)_(152458903_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053883.4, VCV000060011.1 | 1 |