nsv6315416
- 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:30,598,809
- Description:GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 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: 102535 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 102567 SVs from 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315416 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 113,461 | 30,712,269 |
| nsv6315416 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 113,576 | 30,712,376 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977082 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002285039.1, VCV001706484.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977082 | Remapped | Perfect | NC_000005.10:g.(11 3461_?)_(?_3071226 9)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 113,461 | 30,712,269 |
| nssv17977082 | Submitted genomic | NC_000005.9:g.(113 576_?)_(?_30712376 )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 113,576 | 30,712,376 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17977082 | GRCh37: NC_000005.9:g.(113576_?)_(?_30712376)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002285039.1, VCV001706484.1 | 1 |