nsv6137677
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:556,929
- Description:
NC_000002.12:g.47804639_48361567dup 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: 1186 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1186 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137677 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 47,804,639 | 48,361,567 | ||
| nsv6137677 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 48,031,778 | 48,588,706 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683419 | duplication | Multiple | Multiple | See cases | not provided | ClinVar | RCV001568395.3, VCV001180438.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683419 | Submitted genomic | NC_000002.12:g.478 04639_48361567dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 47,804,639 | 48,361,567 | ||
| nssv17683419 | Remapped | Perfect | NC_000002.11:g.480 31778_48588706dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 48,031,778 | 48,588,706 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17683419 | GRCh38: NC_000002.12:g.47804639_48361567dup | duplication | de novo | See cases | not provided | ClinVar | RCV001568395.3, VCV001180438.1 | 3 |