nsv6290388
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:748,992
- Description:GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2719 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 2721 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290388 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 28,167,176 | 28,916,167 |
| nsv6290388 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 28,493,687 | 29,242,679 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957305 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001836514.1, VCV001340314.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957305 | Remapped | Perfect | NC_000001.11:g.(?_ 28167176)_(2891616 7_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 28,167,176 | 28,916,167 |
| nssv17957305 | Submitted genomic | NC_000001.10:g.(?_ 28493687)_(2924267 9_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 28,493,687 | 29,242,679 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957305 | GRCh37: NC_000001.10:g.(?_28493687)_(29242679_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001836514.1, VCV001340314.1 | 1 |