nsv6637322
- 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:2,920,300
- Description:GRCh37/hg19 10q21.1-21.2(chr10:60870153-63790451)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: 6244 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 6245 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637322 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 59,110,393 | 62,030,692 |
| nsv6637322 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 60,870,153 | 63,790,451 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330015 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473747.1, VCV001808430.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330015 | Remapped | Perfect | NC_000010.11:g.(?_ 59110393)_(6203069 2_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 59,110,393 | 62,030,692 |
| nssv18330015 | Submitted genomic | NC_000010.10:g.(?_ 60870153)_(6379045 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 60,870,153 | 63,790,451 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330015 | GRCh37: NC_000010.10:g.(?_60870153)_(63790451_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002473747.1, VCV001808430.1 | 1 |