nsv3900236
- 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:12,996,477
- Description:GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)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: 42988 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 43338 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 12039 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3900236 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 5,363,826 | 18,360,302 |
| nsv3900236 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 5,423,886 | 18,686,796 |
| nsv3900236 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 5,323,746 | 18,559,383 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148223 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142771.5, VCV000154704.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148223 | Submitted genomic | NC_000001.11:g.(?_ 5363826)_(18360302 _?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 5,363,826 | 18,360,302 |
| nssv15148223 | Submitted genomic | NC_000001.10:g.(?_ 5423886)_(18686796 _?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 5,423,886 | 18,686,796 |
| nssv15148223 | Submitted genomic | NC_000001.9:g.(?_5 323746)_(18559383_ ?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,323,746 | 18,559,383 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148223 | GRCh37: NC_000001.10:g.(?_5423886)_(18686796_?)del, GRCh38: NC_000001.11:g.(?_5363826)_(18360302_?)del, NCBI36: NC_000001.9:g.(?_5323746)_(18559383_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142771.5, VCV000154704.2 | 1 |