nsv6637613
- 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:1,397,074
- Description:GRCh37/hg19 17p12(chr17:14087788-15484858)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: 4142 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 4142 SVs from 111 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637613 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 14,184,471 | 15,581,544 |
| nsv6637613 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 14,087,788 | 15,484,858 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330872 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472733.1, VCV001807927.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330872 | Remapped | Perfect | NC_000017.11:g.(?_ 14184471)_(1558154 4_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 14,184,471 | 15,581,544 |
| nssv18330872 | Submitted genomic | NC_000017.10:g.(?_ 14087788)_(1548485 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 14,087,788 | 15,484,858 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330872 | GRCh37: NC_000017.10:g.(?_14087788)_(15484858_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472733.1, VCV001807927.1 | 1 |