nsv3894118
- 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:7,908,721
- Description:GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)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: 33078 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 33079 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 8077 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3894118 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 629,025 | 8,537,745 |
| nsv3894118 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 564,405 | 8,597,804 |
| nsv3894118 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 554,268 | 8,520,391 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145724 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051993.5, VCV000058242.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145724 | Submitted genomic | NC_000001.11:g.(?_ 629025)_(8537745_? )del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 629,025 | 8,537,745 |
| nssv15145724 | Submitted genomic | NC_000001.10:g.(?_ 564405)_(8597804_? )del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 564,405 | 8,597,804 |
| nssv15145724 | Submitted genomic | NC_000001.9:g.(?_5 54268)_(8520391_?) del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 554,268 | 8,520,391 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145724 | GRCh37: NC_000001.10:g.(?_564405)_(8597804_?)del, GRCh38: NC_000001.11:g.(?_629025)_(8537745_?)del, NCBI36: NC_000001.9:g.(?_554268)_(8520391_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051993.5, VCV000058242.1 | 1 |