nsv6313647
- 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:837,401
- Description:GRCh37/hg19 1p31.1-22.3(chr1:84084511-84921911) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2067 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2067 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313647 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 83,618,828 | 84,456,228 |
| nsv6313647 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 84,084,511 | 84,921,911 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970008 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053480.3, VCV001527148.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970008 | Remapped | Perfect | NC_000001.11:g.(?_ 83618828)_(8445622 8_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 83,618,828 | 84,456,228 |
| nssv17970008 | Submitted genomic | NC_000001.10:g.(?_ 84084511)_(8492191 1_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,084,511 | 84,921,911 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970008 | GRCh37: NC_000001.10:g.(?_84084511)_(84921911_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053480.3, VCV001527148.3 |