nsv4675436
- 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:9,629,189
- Description:GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)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: 25676 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 25680 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675436 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,271,450 | 63,900,638 |
| nsv4675436 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 56,031,210 | 65,660,398 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208897 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006326.1, VCV000815349.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208897 | Remapped | Perfect | NC_000010.11:g.(?_ 54271450)_(6390063 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,271,450 | 63,900,638 |
| nssv16208897 | Submitted genomic | NC_000010.10:g.(?_ 56031210)_(6566039 8_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 56,031,210 | 65,660,398 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208897 | GRCh37: NC_000010.10:g.(?_56031210)_(65660398_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006326.1, VCV000815349.1 | 1 |