nsv3900501
- 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:14,682,742
- Description:GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)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: 49844 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 50189 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 13834 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 |
|---|---|---|---|---|---|---|---|
| nsv3900501 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 3,006,193 | 17,688,934 |
| nsv3900501 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 2,922,757 | 18,015,429 |
| nsv3900501 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 2,912,617 | 17,888,016 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147183 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053714.7, VCV000059846.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147183 | Submitted genomic | NC_000001.11:g.(?_ 3006193)_(17688934 _?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 3,006,193 | 17,688,934 |
| nssv15147183 | Submitted genomic | NC_000001.10:g.(?_ 2922757)_(18015429 _?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 2,922,757 | 18,015,429 |
| nssv15147183 | Submitted genomic | NC_000001.9:g.(?_2 912617)_(17888016_ ?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 2,912,617 | 17,888,016 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147183 | GRCh37: NC_000001.10:g.(?_2922757)_(18015429_?)del, GRCh38: NC_000001.11:g.(?_3006193)_(17688934_?)del, NCBI36: NC_000001.9:g.(?_2912617)_(17888016_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053714.7, VCV000059846.2 | 1 |