nsv6314936
- 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:1,986,161
- Description:GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3 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: 5922 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 5922 SVs from 100 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314936 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 43,880,329 | 45,866,489 |
| nsv6314936 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 44,346,001 | 46,332,161 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976347 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV002246181.1, VCV001684561.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976347 | Remapped | Perfect | NC_000001.11:g.(43 880329_?)_(?_45866 489)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 43,880,329 | 45,866,489 |
| nssv17976347 | Submitted genomic | NC_000001.10:g.(44 346001_?)_(?_46332 161)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 44,346,001 | 46,332,161 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976347 | GRCh37: NC_000001.10:g.(44346001_?)_(?_46332161)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV002246181.1, VCV001684561.1 | 3 |